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Neurology

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Articles 2161 - 2190 of 5930

Full-Text Articles in Medical Specialties

5-Aminolevulinic Acid, Fluorescein Sodium, And Indocyanine Green For Glioma Margin Detection: Analysis Of Operating Wide-Field And Confocal Microscopy In Glioma Models Of Various Grades, Evgenii Belykh, Liudmila Bardonova, Irakliy Abramov, Vadim A Byvaltsev, Talgat Kerymbayev, Kwanha Yu, Debbie R Healey, Ernesto Luna-Melendez, Benjamin Deneen, Shwetal Mehta, James K Liu, Mark C Preul Jan 2023

5-Aminolevulinic Acid, Fluorescein Sodium, And Indocyanine Green For Glioma Margin Detection: Analysis Of Operating Wide-Field And Confocal Microscopy In Glioma Models Of Various Grades, Evgenii Belykh, Liudmila Bardonova, Irakliy Abramov, Vadim A Byvaltsev, Talgat Kerymbayev, Kwanha Yu, Debbie R Healey, Ernesto Luna-Melendez, Benjamin Deneen, Shwetal Mehta, James K Liu, Mark C Preul

Faculty, Staff and Students Publications

INTRODUCTION: Surgical resection remains the first-line treatment for gliomas. Several fluorescent dyes are currently in use to augment intraoperative tumor visualization, but information on their comparative effectiveness is lacking. We performed systematic assessment of fluorescein sodium (FNa), 5-aminolevulinic acid (5-ALA)-induced protoporphyrin IX (PpIX), and indocyanine green (ICG) fluorescence in various glioma models using advanced fluorescence imaging techniques.

METHODS: Four glioma models were used: GL261 (high-grade model), GB3 (low-grade model), and an

RESULTS: Our systematic analysis showed that wide-field imaging of highly malignant gliomas is equally efficient with 5-ALA, FNa, and ICG, although FNa is associated with more false-positive staining of …


Primary Spinal Intramedullary Anaplastic Ganglioglioma In A Pediatric Patient, Huy Dang, Abdul Basit Khan, Nisha Gadgil, Marc Prablek, Frank Y Lin, Melissa M Blessing, Guillermo Aldave, David Bauer Jan 2023

Primary Spinal Intramedullary Anaplastic Ganglioglioma In A Pediatric Patient, Huy Dang, Abdul Basit Khan, Nisha Gadgil, Marc Prablek, Frank Y Lin, Melissa M Blessing, Guillermo Aldave, David Bauer

Faculty, Staff and Students Publications

BACKGROUND: Gangliogliomas (GGs) are rare tumors of the central nervous system composed of neoplastic neural and glial cells and are typically low-grade. Intramedullary spinal anaplastic GGs (AGG) are rare, poorly understood, and often aggressive tumors that can result in widespread progression along the craniospinal axis. Due to the rarity of these tumors, data are lacking to guide clinical and pathologic diagnosis and standard of care treatment. Here, we present a case of pediatric spinal AGG to provide information on our institutional approach to work-up and to highlight unique molecular pathology.

CASE DESCRIPTION: A 13-year-old female presented with signs of spinal …


Linked-Read Based Analysis Of The Medulloblastoma Genome, Melissa Zwaig, Michael J Johnston, John J Y Lee, Hamza Farooq, Marco Gallo, Nada Jabado, Michael D Taylor, Jiannis Ragoussis Jan 2023

Linked-Read Based Analysis Of The Medulloblastoma Genome, Melissa Zwaig, Michael J Johnston, John J Y Lee, Hamza Farooq, Marco Gallo, Nada Jabado, Michael D Taylor, Jiannis Ragoussis

Faculty, Staff and Students Publications

INTRODUCTION: Medulloblastoma is the most common type of malignant pediatric brain tumor with group 4 medulloblastomas (G4 MBs) accounting for 40% of cases. However, the molecular mechanisms that underlie this subgroup are still poorly understood. Point mutations are detected in a large number of genes at low incidence per gene while the detection of complex structural variants in recurrently affected genes typically requires the application of long-read technologies.

METHODS: Here, we applied linked-read sequencing, which combines the long-range genome information of long-read sequencing with the high base pair accuracy of short read sequencing and very low sample input requirements.

RESULTS: …


Editorial: Molecular Mechanisms In Ocular Development And Disease, Rajalekshmy Shyam, Daisy Y Shu, Elizabeth Zuniga-Sanchez, Deepika Vasudevan Jan 2023

Editorial: Molecular Mechanisms In Ocular Development And Disease, Rajalekshmy Shyam, Daisy Y Shu, Elizabeth Zuniga-Sanchez, Deepika Vasudevan

Faculty, Staff and Students Publications

No abstract provided.


Long-Term Neuropsychological Outcomes In Children With Febrile Infection-Related Epilepsy Syndrome (Fires) Treated With Anakinra, Anima Shrestha, E Lynne Wood, Gretchen Berrios-Siervo, Coral M Stredny, Katrina Boyer, Clemente Vega, Srishti Nangia, Eyal Muscal, Krista Eschbach Jan 2023

Long-Term Neuropsychological Outcomes In Children With Febrile Infection-Related Epilepsy Syndrome (Fires) Treated With Anakinra, Anima Shrestha, E Lynne Wood, Gretchen Berrios-Siervo, Coral M Stredny, Katrina Boyer, Clemente Vega, Srishti Nangia, Eyal Muscal, Krista Eschbach

Faculty, Staff and Students Publications

BACKGROUND: Febrile-infection related epilepsy syndrome (FIRES) is a rare epilepsy syndrome in which a previously healthy individual develops refractory status epilepticus in the setting of a preceding febrile illness. There are limited data regarding detailed long-term outcomes. This study aims to describe the long-term neuropsychological outcomes in a series of pediatric patients with FIRES.

METHODS: This is a retrospective multi-center case series of pediatric patients with a diagnosis of FIRES treated acutely with anakinra who had neuropsychological testing at least 12 months after status epilepticus onset. Each patient underwent comprehensive neuropsychological evaluation as part of routine clinical care. Additional data …


Specialized Intensive Inpatient Rehabilitation Is Crucial And Time-Sensitive For Functional Recovery From Disorders Of Consciousness, Bei Zhang, Katherine O'Brien, Jean Woo, Bradley Chi, Colton Reeh, Sheng Li, Sunil Kothari Jan 2023

Specialized Intensive Inpatient Rehabilitation Is Crucial And Time-Sensitive For Functional Recovery From Disorders Of Consciousness, Bei Zhang, Katherine O'Brien, Jean Woo, Bradley Chi, Colton Reeh, Sheng Li, Sunil Kothari

Faculty, Staff and Students Publications

BACKGROUND: Disorders of consciousness (DoCs) after severe brain injury are considered to be conditions with dire prognosis. Despite the accumulating evidence, inpatient rehabilitation is often denied by payers referring to the Medicare/Medicaid criteria, under the assumption that such patients will not "

OBJECTIVE: This study aimed to report on the effectiveness and efficiency of a specialized inpatient DoC rehabilitation program based on measurable clinical parameters.

METHODS: A retrospective cohort study was conducted. The cohort comprised 137 patients with DoC admitted to a specialized acute inpatient rehabilitation program between January 2014 and October 2018. Patients were categorized as having been admitted …


Biallelic Prmt7 Pathogenic Variants Are Associated With A Recognizable Syndromic Neurodevelopmental Disorder With Short Stature, Obesity, And Craniofacial And Digital Abnormalities, Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K Bijlsma, Kristen M Wigby, Diana Baralle, Mohammad Y V Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T Vulto-Van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E Nasab, A Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C Taylor, Melody Redman, Alexander P A Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N Schweitzer, Alison Kraus, Irene Valenzuela, Scott D Mclean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E Schnur, Erin Torti, Tobias B Haack, Carlos E Prada, Fowzan S Alkuraya, Henry Houlden, Reza Maroofian Jan 2023

Biallelic Prmt7 Pathogenic Variants Are Associated With A Recognizable Syndromic Neurodevelopmental Disorder With Short Stature, Obesity, And Craniofacial And Digital Abnormalities, Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K Bijlsma, Kristen M Wigby, Diana Baralle, Mohammad Y V Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T Vulto-Van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E Nasab, A Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C Taylor, Melody Redman, Alexander P A Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N Schweitzer, Alison Kraus, Irene Valenzuela, Scott D Mclean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E Schnur, Erin Torti, Tobias B Haack, Carlos E Prada, Fowzan S Alkuraya, Henry Houlden, Reza Maroofian

Faculty, Staff and Students Publications

PURPOSE: Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes the detailed clinical characteristics of this syndrome. Thus, we aim to delineate the phenotypic spectrum of PRMT7-related disorder.

METHODS: We assembled a cohort of 51 affected individuals from 39 different families, gathering clinical information from 36 newly described affected individuals and reviewing data of 15 …


Focused Ultrasound Thalamotomy: Correlation Of Postoperative Imaging With Neuropathological Findings, Sarah E Blitz, Matthew Torre, Melissa M J Chua, Sarah L Christie, Nathan J Mcdannold, G Rees Cosgrove Jan 2023

Focused Ultrasound Thalamotomy: Correlation Of Postoperative Imaging With Neuropathological Findings, Sarah E Blitz, Matthew Torre, Melissa M J Chua, Sarah L Christie, Nathan J Mcdannold, G Rees Cosgrove

Duncan NRI Faculty and Staff Publications

Magnetic resonance-guided high-intensity focused ultrasound (MRgFUS) is a rapidly developing technique used for tremor relief in tremor-predominant Parkinson's disease (PD) and essential tremor that has demonstrated successful results. Here, we describe the neuropathological findings in a woman who died from a fall 10 days after successful MRgFUS for tremor-predominant PD. Histological analysis demonstrates the characteristic early postoperative MRI findings including 3 distinct zones on T2-weighted imaging: (1) a hypointense core, (2) a hyperintense region with hypointense rim, and (3) a slightly hyperintense, poorly marginated surrounding area. Histopathological analyses also demonstrate the suspected cellular processes composing each of these regions including …


The Role Of The Nlrp3 Inflammasome In Alzheimer's Disease, Ethan S. Terman Jan 2023

The Role Of The Nlrp3 Inflammasome In Alzheimer's Disease, Ethan S. Terman

Undergraduate Research Posters

This study examines the consequences of Alzheimer’s in rat and mice test subjects. The goal is to identify the effects of certain NLRP3 inhibiting drugs and to see if there are any noticeable effects in regards to impeding the pathological development of Alzheimer’s disease. The results are visualized by implementing the immunohistochemical process to identify neurodegeneration in the brain and to assess the expression levels of amyloid beta as an indicator of Alzheimer’s pathology. Other tests are also conducted on these transgenic mice to gauge cognitive functioning levels during the onset of their disease, those being behavior tests, but not …


Association Of Human Leukocyte Antigen Alleles With Carbamazepine-Or Lamotrigine-Induced Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis In An Iranian Population: A Case-Control Study, Ladan Dastgheib, Farima Rostami, Behrouz Gharesi-Fard, Ali Akbar Asadi-Pooya, Saba Namjoo, Foroozan Tahmasebi, Maryam Hadibarhaghtalab Jan 2023

Association Of Human Leukocyte Antigen Alleles With Carbamazepine-Or Lamotrigine-Induced Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis In An Iranian Population: A Case-Control Study, Ladan Dastgheib, Farima Rostami, Behrouz Gharesi-Fard, Ali Akbar Asadi-Pooya, Saba Namjoo, Foroozan Tahmasebi, Maryam Hadibarhaghtalab

Department of Neurology Faculty Papers

Background: Genetic diversity in human leukocyte antigen (HLA) alleles across populations is a significant risk factor for drug-induced severe cutaneous adverse reactions (SCARs), e.g., carbamazepine (CBZ)- and lamotrigine (LTG)-induced StevensJohnson syndrome (SJS), and toxic epidermal necrolysis (TEN). The present study aimed to investigate the frequency of different HLA alleles in Iranian patients with CBZ- and LTG-induced SJS/TEN.

Methods:A case-control study was conducted from 2011 to 2018 at various hospitals affiliated with Shiraz University of Medical Sciences (Shiraz, Iran). A total of 31 patients receiving anticonvulsant drugs (CZB or LTG) were recruited and divided into two groups. The drug-induced group …


Safety And Tolerability Results Of Atogepant For The Preventive Treatment Of Episodic Migraine From A 40-Week, Open-Label Multicenter Extension Of The Phase 3 Advance Trial, Brad C Klein, Rosa Miceli, Lawrence Severt, Peter Mcallister, Laszlo Mechtler, Jennifer Mcvige, Merle Diamond, Michael J. Marmura, Hua Guo, Michelle Finnegan, Joel M Trugman Jan 2023

Safety And Tolerability Results Of Atogepant For The Preventive Treatment Of Episodic Migraine From A 40-Week, Open-Label Multicenter Extension Of The Phase 3 Advance Trial, Brad C Klein, Rosa Miceli, Lawrence Severt, Peter Mcallister, Laszlo Mechtler, Jennifer Mcvige, Merle Diamond, Michael J. Marmura, Hua Guo, Michelle Finnegan, Joel M Trugman

Department of Neurology Faculty Papers

Background: Atogepant is a United States Food and Drug Administration-approved oral calcitonin gene-related peptide receptor antagonist for the preventive treatment of episodic migraine. The study objective was to evaluate the long-term safety and tolerability of atogepant in participants who completed the phase 3 ADVANCE trial (NCT03777059).

Methods: This 40-week, open-label extension trial (NCT03939312) monitored safety in participants receiving oral atogepant 60 mg once daily, followed by a four-week safety follow-up period.

Results: Of the 685 participants taking at least one dose of atogepant, the treatment period was completed by 74.6% of participants with a mean (standard …


Work Difficulties, Work Restrictions, And Disability Benefits In People With Functional Seizures: A Survey Study, Jared Woodward, A A Asadi-Pooya, Bridget Mildon, Benjamin Tolchin Jan 2023

Work Difficulties, Work Restrictions, And Disability Benefits In People With Functional Seizures: A Survey Study, Jared Woodward, A A Asadi-Pooya, Bridget Mildon, Benjamin Tolchin

Department of Neurology Faculty Papers

Purpose: Functional seizures (FS) cause significant long-term disability and clinicians offer differing views on proper work restrictions and qualifications for disability benefits in this population. We assess the views and perspectives of experienced disability and work limitations in people living with functional seizures. Methods: Between (4/29/2020–1/13/2021) an open-access 21-item internet survey was conducted via FNDHope.org; allowing for people living with self-reported functional seizures to remark on topics of work difficulties, work restrictions, qualifications for disability benefits, and driving. Demographic information was collected, and univariate and multivariate logistic regressions were used to evaluate potential predictors of current employment status. Results: One …


Pengaruh Diaphragmatic Breathing Dan Endurance Exercise Terhadap Peningkatan Kapasitas Kardiorespirasi Pada Pasien Hospital-Acquired Pneumonia, Alifia Azzahra, Annisya Puspitarani, Zahra Sativani, Riza Pahlawi Dec 2022

Pengaruh Diaphragmatic Breathing Dan Endurance Exercise Terhadap Peningkatan Kapasitas Kardiorespirasi Pada Pasien Hospital-Acquired Pneumonia, Alifia Azzahra, Annisya Puspitarani, Zahra Sativani, Riza Pahlawi

Jurnal Fisioterapi Terapan Indonesia

The purpose of this case study is to determine the effect of diaphragmatic breathing and endurance exercise in hospital-acquired pneumonia (HAP). Nosocomial pneumonia that occurs in 48 hours or more after the patient admitted to the hospital, without any signs of pulmonary infection. The existence of clinical manifestations that appear, patients with HAP tend to avoid physical activity which can decrease the functional capacity of the respiratory system and have an impact on decreasing endurance. Diaphragmatic breathing exercise is thought to be able to help reduce shortness of breath, reduce the work of the accessory muscles of breathing, improve breathing …


Kdm6b Variants May Contribute To The Pathophysiology Of Human Cerebral Folate Deficiency, Xiao Han, Xuanye Cao, Robert M Cabrera, Paula Andrea Pimienta Ramirez, Cuilian Zhang, Vincent T Ramaekers, Richard H Finnell, Yunping Lei Dec 2022

Kdm6b Variants May Contribute To The Pathophysiology Of Human Cerebral Folate Deficiency, Xiao Han, Xuanye Cao, Robert M Cabrera, Paula Andrea Pimienta Ramirez, Cuilian Zhang, Vincent T Ramaekers, Richard H Finnell, Yunping Lei

Faculty, Staff and Students Publications

(1) Background: The genetic etiology of most patients with cerebral folate deficiency (CFD) remains poorly understood. KDM6B variants were reported to cause neurodevelopmental diseases; however, the association between KDM6B and CFD is unknown; (2) Methods: Exome sequencing (ES) was performed on 48 isolated CFD cases. The effect of KDM6B variants on KDM6B protein expression, Histone H3 lysine 27 epigenetic modification and FOLR1 expression were examined in vitro. For each patient, serum FOLR1 autoantibodies were measured; (3) Results: Six KDM6B variants were identified in five CFD patients, which accounts for 10% of our CFD cohort cases. Functional experiments indicated that these …


Acute Hemiplegia And Ataxia From Lyme Disease, Shaili Babbar, Jonathan Galati, Jasmine Corona, Sohail Zahid Dec 2022

Acute Hemiplegia And Ataxia From Lyme Disease, Shaili Babbar, Jonathan Galati, Jasmine Corona, Sohail Zahid

Cooper Rowan Medical Journal

Lyme disease is a zoonotic illness caused by Borrelia burgdorferi, which present with skin, joint, heart, and central nervous system complications. Central nervous system manifestations of this disease are common, and typically include meningitis, facial nerve palsies, and radiculoneuritis. In this case report, we present a patient who presented with acute right sided hemiplegia and ataxia with negative neuroimaging findings of stroke, inflammation, or mass. Further investigation with cerebrospinal fluid studies and infectious panels revealed the patient had active Lyme disease. The patient improved his motor function, coordination and sensation with ceftriaxone treatment over a few weeks. Acute hemiplegia and …


Unsupervised Machine Learning Using K-Means Identifies Radiomic Subgroups Of Pediatric Low-Grade Gliomas That Correlate With Key Molecular Markers, Debanjan Haldar, Anahita Fathi Kazerooni, Sherjeel Arif, Ariana Familiar, Rachel Madhogarhia, Nastaran Khalili, Sina Bagheri, Hannah Anderson, Ibraheem Salman Shaikh, Aria Mahtabfar, Meen Chul Kim, Wenxin Tu, Jefferey Ware, Arastoo Vossough, Christos Davatzikos, Phillip B Storm, Adam Resnick, Ali Nabavizadeh Dec 2022

Unsupervised Machine Learning Using K-Means Identifies Radiomic Subgroups Of Pediatric Low-Grade Gliomas That Correlate With Key Molecular Markers, Debanjan Haldar, Anahita Fathi Kazerooni, Sherjeel Arif, Ariana Familiar, Rachel Madhogarhia, Nastaran Khalili, Sina Bagheri, Hannah Anderson, Ibraheem Salman Shaikh, Aria Mahtabfar, Meen Chul Kim, Wenxin Tu, Jefferey Ware, Arastoo Vossough, Christos Davatzikos, Phillip B Storm, Adam Resnick, Ali Nabavizadeh

Department of Neurosurgery Faculty Papers

Introduction: Despite advancements in molecular and histopathologic characterization of pediatric low-grade gliomas (pLGGs), there remains significant phenotypic heterogeneity among tumors with similar categorizations. We hypothesized that an unsupervised machine learning approach based on radiomic features may reveal distinct pLGG imaging subtypes.

Methods: Multi-parametric MR images (T1 pre- and post-contrast, T2, and T2 FLAIR) from 157 patients with pLGGs were collected and 881 quantitative radiomic features were extracted from tumorous region. Clustering was performed using K-means after applying principal component analysis (PCA) for feature dimensionality reduction. Molecular and demographic data was obtained from the PedCBioportal and compared between imaging subtypes.

Results: …


Successful Treatment Of Myofascial Pain Syndrome (Mps) With Surgical Cauterization Of Temporalis Muscle Trigger Points: A Case Report, Craig Pearl, Brendan Moxley, Andrew Perry, Nagi Demian Dec 2022

Successful Treatment Of Myofascial Pain Syndrome (Mps) With Surgical Cauterization Of Temporalis Muscle Trigger Points: A Case Report, Craig Pearl, Brendan Moxley, Andrew Perry, Nagi Demian

Faculty, Staff and Student Publications

For patients suffering from myofascial pain syndrome (MPS) affecting muscles of mastication, traditional trigger point therapy treatment regimens can prove inconvenient, due to the short duration of pain relief after each injection and expense of repeated visits which are often not covered by insurance. We present a case of a patient treated using an alternative technique that could develop into an additional modality for treating MPS patients who are refractory to conservative treatment. This technique involves identifying and marking the patient's trigger points and surgically cauterizing each location using a Bovie electrosurgical unit. While traditional trigger point injection therapy for …


White Matter Correlates Of Domain-Specific Working Memory, Autumn Horne, Junhua Ding, Tatiana T Schnur, Randi C Martin Dec 2022

White Matter Correlates Of Domain-Specific Working Memory, Autumn Horne, Junhua Ding, Tatiana T Schnur, Randi C Martin

Faculty, Staff and Student Publications

Prior evidence suggests domain-specific working memory (WM) buffers for maintaining phonological (i.e., speech sound) and semantic (i.e., meaning) information. The phonological WM buffer's proposed location is in the left supramarginal gyrus (SMG), whereas semantic WM has been related to the left inferior frontal gyrus (IFG), the middle frontal gyrus (MFG), and the angular gyrus (AG). However, less is known about the white matter correlates of phonological and semantic WM. We tested 45 individuals with left hemisphere brain damage on single word processing, phonological WM, and semantic WM tasks and obtained T1 and diffusion weighted neuroimaging. Virtual dissections were performed for …


Xcvatr: Detection And Characterization Of Variant Impact On The Embeddings Of Single -Cell And Bulk Rna-Sequencing Samples, Arif Harmanci, Akdes Serin Harmanci, Tiemo J Klisch, Akash J Patel Dec 2022

Xcvatr: Detection And Characterization Of Variant Impact On The Embeddings Of Single -Cell And Bulk Rna-Sequencing Samples, Arif Harmanci, Akdes Serin Harmanci, Tiemo J Klisch, Akash J Patel

Duncan NRI Faculty and Staff Publications

Background: RNA-sequencing has become a standard tool for analyzing gene activity in bulk samples and at the single-cell level. By increasing sample sizes and cell counts, this technique can uncover substantial information about cellular transcriptional states. Beyond quantification of gene expression, RNA-seq can be used for detecting variants, including single nucleotide polymorphisms, small insertions/deletions, and larger variants, such as copy number variants. Notably, joint analysis of variants with cellular transcriptional states may provide insights into the impact of mutations, especially for complex and heterogeneous samples. However, this analysis is often challenging due to a prohibitively high number of variants and …


How To Manage The Initiation Of Apomorphine Therapy Without Antiemetic Pretreatment: A Review Of The Literature, Stuart H. Isaacson, Richard B. Dewey, Rajesh Pahwa, Daniel E. Kremens Dec 2022

How To Manage The Initiation Of Apomorphine Therapy Without Antiemetic Pretreatment: A Review Of The Literature, Stuart H. Isaacson, Richard B. Dewey, Rajesh Pahwa, Daniel E. Kremens

Department of Neurology Faculty Papers

Introduction

Pretreatment with the antiemetic trimethobenzamide has been recommended practice in the United States (US) to address the risk of nausea and vomiting during initiation of apomorphine treatment. However, trimethobenzamide is no longer being manufactured in the US, and despite the recent update to the US prescribing information, there may be uncertainty regarding how to initiate apomorphine.

Methods

To better understand why antiemetic pretreatment was recommended and if it is necessary when initiating apomorphine therapy, we performed a literature review of subcutaneous apomorphine therapy initiation with and without antiemetic pretreatment in patients with PD.

Results

Three studies were identified as …


Empowering Nurses To Recognize Post-Stroke Depression In The African American Community, Deidra Frisbie, Robin Simon Dec 2022

Empowering Nurses To Recognize Post-Stroke Depression In The African American Community, Deidra Frisbie, Robin Simon

Doctor of Nursing Practice Projects

African Americans (AA) have the highest prevalence of stroke and death compared to other racial groups in the United States. Post-stroke depression (PSD) affects approximately 1/3 of all stroke patients and is underdiagnosed in the African American community.

Aim: By using a mHealth mobile app and a Psychiatry provider list at discharge, PSD can be identified, and interventions initiated, thus decreasing the sequela of PSD in AA.

Methods: Nurses were provided education on PSD, expressions of depression in African-Americans, cultural humility, implicit bias, and the importance of the nurse's role in developing a therapeutic relationship.

Results: Quantitative analysis revealed the …


Assessment Of Caregiver Burden In A Memory Loss Clinic, Andrea Perkins Dec 2022

Assessment Of Caregiver Burden In A Memory Loss Clinic, Andrea Perkins

Doctor of Nursing Practice Projects

Background: Over 131,000 people in Illinois identify themselves as caregivers of someone with memory loss. The family caregiver may provide care including, but not limited to, assistance with activities of daily living, financial responsibilities, behavior management, and scheduling, and transportation to medical appointments. The care provided by the caregivers may lead to caregiver burden symptoms of depression, anxiety, and perceived stress. Purpose: Health care providers at a central Illinois memory clinic are not currently completing formal assessments of caregiver burden. This quality improvement project was done to determine if the current memory loss program services provide enough support …


Using Wearable Sensors To Measure Goal Achievement In Older Veterans With Dementia, Jennifer Freytag, Ram Kinker Mishra, Richard L Street, Angela Catic, Lilian Dindo, Lea Kiefer, Bijan Najafi, Aanand D Naik Dec 2022

Using Wearable Sensors To Measure Goal Achievement In Older Veterans With Dementia, Jennifer Freytag, Ram Kinker Mishra, Richard L Street, Angela Catic, Lilian Dindo, Lea Kiefer, Bijan Najafi, Aanand D Naik

Faculty, Staff and Students Publications

Aligning treatment with patients’ self-determined goals and health priorities is challenging in dementia care. Wearable-based remote health monitoring may facilitate determining the active participation of individuals with dementia towards achieving the determined goals. The present study aimed to demonstrate the feasibility of using wearables to assess healthcare goals set by older adults with cognitive impairment. We present four specific cases that assess (1) the feasibility of using wearables to monitor healthcare goals, (2) differences in function after goal-setting visits, and (3) goal achievement. Older veterans (n = 17) with cognitive impairment completed self-report assessments of mobility, then had an …


Evaluation Of Blood-Based, Extracellular Vesicles As Biomarkers For Aging-Related Tdp-43 Pathology, Charisse N. Winston, Sonal Sukreet, Haley Lynch, Virginia M. -Y. Lee, Donna M. Wilcock, Peter T. Nelson, Robert A. Rissman Dec 2022

Evaluation Of Blood-Based, Extracellular Vesicles As Biomarkers For Aging-Related Tdp-43 Pathology, Charisse N. Winston, Sonal Sukreet, Haley Lynch, Virginia M. -Y. Lee, Donna M. Wilcock, Peter T. Nelson, Robert A. Rissman

Neurology Faculty Publications

Introduction: Limbic predominant age related TDP-43 encephalopathy neuropathological change (LATE-NC) is a recently characterized brain disease that mimics Alzheimer’s disease (AD) clinically. To date, LATE-NC is difficult to diagnose antemortem using clinical information or biomarkers. Recent studies suggest concentrations of extracellular vesicle (EVs) protein cargo derived from neuronal and glial cells may serve as useful diagnostic biomarkers for AD and other neurodegenerative diseases.

Methods: TDP-43 was evaluated in neuronal (NDEVs), astrocyte (ADEVs), and microglial derived extracellular vesicles (MDEVs). EV preparations were isolated from the plasma of research subjects with autopsy-confirmed diagnoses, including many with LATE (n = 22). …


Frequency And Burden Of Neurological Manifestations Upon Hospital Presentation In Covid-19 Patients: Findings From A Large Brazilian Cohort, Milena Soriano Marcolino, Fernando Anschau, Luciane Kopittke, Magda Carvalho Pires, Izabela Guimarães Barbosa, Daniella Nunes Pereira, Lucas Emanuel Ferreira Ramos, Luís Fernando Israel Assunção, André Soares De Moura Costa, Matheus Carvalho Alves Nogueira, Helena Duani, Karina Paula Medeiros Prado Martins, Leila Beltrami Moreira, Carla Thais Cândida Alves Da Silva, Neimy Ramos De Oliveira, Patricia Klarmann Ziegelmann, Milton Henriques Guimarães-Júnior, Mauro Oscar Soares De Souza Lima, Rubia Laura Oliveira Aguiar, Luanna Silva Monteiro Menezes, Talita Fischer Oliveira, Maíra Dias Souza, Bárbara Lopes Farace, Christiane Corrêa Rodrigues Cimini, Amanda De Oliveira Maurílio, Silvana Mangeon Mereilles Guimarães, Silvia Ferreira Araújo, Guilherme Fagundes Nascimento, Daniel Vitório Silveira, Karen Brasil Ruschel, Thainara Conceição De Oliveira, Alexandre Vargas Schwarzbold, Luiz Antônio Nasi, Maiara Anschau Floriani, Veridiana Baldon Dos Santos, Carolina Marques Ramos, Joice Coutinho De Alvarenga, Ana Luiza Bahia Alves Scotton, Euler Roberto Fernandes Manenti, Gabriela Petry Crestani, Joanna D'Arc Lyra Batista, Daniela Ponce, Juliana Machado-Rugolo, Adriana Falangola Benjamin Bezerra, Petrônio José De Lima Martelli, Heloisa Reniers Vianna, Luís César De Castro, Cássia Regina Gotler Medeiros, Giovanna Grunewald Vietta, Elayne Crestani Pereira, José Miguel Chatkin, Mariana Frizzo De Godoy, Polianna Delfino-Pereira, Antonio Lucio Teixeira Dec 2022

Frequency And Burden Of Neurological Manifestations Upon Hospital Presentation In Covid-19 Patients: Findings From A Large Brazilian Cohort, Milena Soriano Marcolino, Fernando Anschau, Luciane Kopittke, Magda Carvalho Pires, Izabela Guimarães Barbosa, Daniella Nunes Pereira, Lucas Emanuel Ferreira Ramos, Luís Fernando Israel Assunção, André Soares De Moura Costa, Matheus Carvalho Alves Nogueira, Helena Duani, Karina Paula Medeiros Prado Martins, Leila Beltrami Moreira, Carla Thais Cândida Alves Da Silva, Neimy Ramos De Oliveira, Patricia Klarmann Ziegelmann, Milton Henriques Guimarães-Júnior, Mauro Oscar Soares De Souza Lima, Rubia Laura Oliveira Aguiar, Luanna Silva Monteiro Menezes, Talita Fischer Oliveira, Maíra Dias Souza, Bárbara Lopes Farace, Christiane Corrêa Rodrigues Cimini, Amanda De Oliveira Maurílio, Silvana Mangeon Mereilles Guimarães, Silvia Ferreira Araújo, Guilherme Fagundes Nascimento, Daniel Vitório Silveira, Karen Brasil Ruschel, Thainara Conceição De Oliveira, Alexandre Vargas Schwarzbold, Luiz Antônio Nasi, Maiara Anschau Floriani, Veridiana Baldon Dos Santos, Carolina Marques Ramos, Joice Coutinho De Alvarenga, Ana Luiza Bahia Alves Scotton, Euler Roberto Fernandes Manenti, Gabriela Petry Crestani, Joanna D'Arc Lyra Batista, Daniela Ponce, Juliana Machado-Rugolo, Adriana Falangola Benjamin Bezerra, Petrônio José De Lima Martelli, Heloisa Reniers Vianna, Luís César De Castro, Cássia Regina Gotler Medeiros, Giovanna Grunewald Vietta, Elayne Crestani Pereira, José Miguel Chatkin, Mariana Frizzo De Godoy, Polianna Delfino-Pereira, Antonio Lucio Teixeira

Faculty, Staff and Student Publications

BACKGROUND: Scientific data regarding the prevalence of COVID-19 neurological manifestations and prognosis in Latin America countries is still lacking. Therefore, the study aims to understand neurological manifestations of SARS-CoV 2 infection and outcomes in the Brazilian population.

METHODS: This study is part of the Brazilian COVID-19 Registry, a multicentric cohort, including data from 37 hospitals. For the present analysis, patients were grouped according to the presence of reported symptoms (i.e., headache; anosmia and ageusia; syncope and dizziness) vs. clinically-diagnosed neurological manifestations (clinically-defined neurological syndrome: neurological signs or diagnoses captured by clinical evaluation) and matched with patients without neurological manifestations by …


Detection Of Stroke With Retinal Microvascular Density And Self-Supervised Learning Using Oct-A And Fundus Imaging, Samiksha Pachade, Ivan Coronado, Rania Abdelkhaleq, Juntao Yan, Sergio Salazar-Marioni, Amanda Jagolino, Charles Green, Mozhdeh Bahrainian, Roomasa Channa, Sunil A Sheth, Luca Giancardo Dec 2022

Detection Of Stroke With Retinal Microvascular Density And Self-Supervised Learning Using Oct-A And Fundus Imaging, Samiksha Pachade, Ivan Coronado, Rania Abdelkhaleq, Juntao Yan, Sergio Salazar-Marioni, Amanda Jagolino, Charles Green, Mozhdeh Bahrainian, Roomasa Channa, Sunil A Sheth, Luca Giancardo

Faculty, Staff and Student Publications

Acute cerebral stroke is a leading cause of disability and death, which could be reduced with a prompt diagnosis during patient transportation to the hospital. A portable retina imaging system could enable this by measuring vascular information and blood perfusion in the retina and, due to the homology between retinal and cerebral vessels, infer if a cerebral stroke is underway. However, the feasibility of this strategy, the imaging features, and retina imaging modalities to do this are not clear. In this work, we show initial evidence of the feasibility of this approach by training machine learning models using feature engineering …


Gata1 Controls Numbers Of Hematopoietic Progenitors And Their Response To Autoimmune Neuroinflammation, Daniel Hwang, Larissa Ishikawa, Maryam S. Seyedsadr, Elisabeth R. Mari, Ezgi Kasimoglu, Ziver Sahin, Alexandra Boehm, Soohwa Jang, Javad Rasouli, Courtney Vaccaro, Michael Gonzalez, Hakon Hakonarson, Mohamad Rostami, Guang-Xian Zhang, Bogoljub Ciric Dec 2022

Gata1 Controls Numbers Of Hematopoietic Progenitors And Their Response To Autoimmune Neuroinflammation, Daniel Hwang, Larissa Ishikawa, Maryam S. Seyedsadr, Elisabeth R. Mari, Ezgi Kasimoglu, Ziver Sahin, Alexandra Boehm, Soohwa Jang, Javad Rasouli, Courtney Vaccaro, Michael Gonzalez, Hakon Hakonarson, Mohamad Rostami, Guang-Xian Zhang, Bogoljub Ciric

Department of Neurology Faculty Papers

GATA-binding factor 1 (GATA1) is a transcription factor that governs the development and function of multiple hematopoietic cell lineages. GATA1 is expressed in hematopoietic stem and progenitor cells (HSPCs) and is essential for erythroid lineage commitment; however, whether it plays a role in hematopoietic stem cell (HSC) biology and the development of myeloid cells, and what that role might be, remains unclear. We initially set out to test the role of eosinophils in experimental autoimmune encephalomyelitis (EAE), a model of central nervous system autoimmunity, using mice lacking a double GATA-site (ΔdblGATA), which lacks eosinophils due to the deletion of the …


The Spectral Sensitivity Of Human Circadian Phase Resetting And Melatonin Suppression To Light Changes Dynamically With Light Duration, Melissa A. St Hilaire, María L. Ámundadóttir, Shadab A. Rahman, Shantha M. W. Rajaratnam, Melanie Rüger, George C. Brainard, Charles A. Czeisler, Marilyne Andersen, Joshua J. Gooley, Steven W. Lockley Dec 2022

The Spectral Sensitivity Of Human Circadian Phase Resetting And Melatonin Suppression To Light Changes Dynamically With Light Duration, Melissa A. St Hilaire, María L. Ámundadóttir, Shadab A. Rahman, Shantha M. W. Rajaratnam, Melanie Rüger, George C. Brainard, Charles A. Czeisler, Marilyne Andersen, Joshua J. Gooley, Steven W. Lockley

Department of Neurology Faculty Papers

Human circadian, neuroendocrine, and neurobehavioral responses to light are mediated primarily by melanopsin-containing intrinsically-photosensitive retinal ganglion cells (ipRGCs) but they also receive input from visual photoreceptors. Relative photoreceptor contributions are irradiance- and duration-dependent but results for long-duration light exposures are limited. We constructed irradiance-response curves and action spectra for melatonin suppression and circadian resetting responses in participants exposed to 6.5-h monochromatic 420, 460, 480, 507, 555, or 620 nm light exposures initiated near the onset of nocturnal melatonin secretion. Melatonin suppression and phase resetting action spectra were best fit by a single-opsin template with lambdamax at 481 and 483 …


Contributions Of Semantic And Phonological Working Memory To Narrative Language Independent Of Single Word Production: Evidence From Acute Stroke, Rachel Zahn, Tatiana T Schnur, Randi C Martin Dec 2022

Contributions Of Semantic And Phonological Working Memory To Narrative Language Independent Of Single Word Production: Evidence From Acute Stroke, Rachel Zahn, Tatiana T Schnur, Randi C Martin

Faculty, Staff and Student Publications

Neuropsychological case studies have provided evidence that individuals with semantic, but not phonological, working memory (WM) deficits have difficulty producing phrases containing several content words. These findings supported the claim of a phrasal scope of planning at the grammatical formulation stage of production, where semantic WM supports the maintenance of lexical-semantic representations as they are inserted into slots in phrasal constituents. Recent narrative production results for individuals at the acute stage of stroke supported the role for semantic WM in phrasal elaboration while suggesting a role for phonological WM at a subsequent phonological encoding stage in supporting fluent, rapid speech. …


Phenol Neurolysis In People With Spinal Cord Injury: A Descriptive Study, Radha Korupolu, Aila Malik, Erin Pemberton, Argyrios Stampas, Sheng Li Dec 2022

Phenol Neurolysis In People With Spinal Cord Injury: A Descriptive Study, Radha Korupolu, Aila Malik, Erin Pemberton, Argyrios Stampas, Sheng Li

Faculty, Staff and Student Publications

STUDY DESIGN: Descriptive study.

OBJECTIVES: The study's main objective was to describe the common targets of phenol neurolysis and review the safety and efficacy of the dose used for this spasticity management procedure in people with spinal cord injury (SCI).

SETTING: An acute rehabilitation hospital.

METHODS: Data from people with SCI who underwent phenol neurolysis procedures for spasticity management between April 2017 and August 2018 were included in this study. We collected demographics and phenol neurolysis procedure-related information.

RESULTS: A total of 66 people with SCI and spasticity underwent phenol neurolysis of 303 nerves over 102 encounters. During these encounters, …