Medical Specialties Commons^™

The Value Of Peer Support In Curbing Moral Injury: A Resident’S Perspective, May W Chen, Jennifer K Lee, Gilbert Vezina, Aylin Tekes, Jamie Perin, Ruoying Li, Alexandra O'Kane, Meaghan Mcgowan, Taeun Chang, Charlamaine Parkinson, Colleen Krein, Tareq Al-Shargabi, Frances J Northington, Ken M Brady, An N Massaro, Rathinaswamy B Govindan

Faculty, Staff and Student Publications

Identifying the hemodynamic range that best supports cerebral perfusion using near infrared spectroscopy (NIRS) autoregulation monitoring is a potential physiologic marker for neonatal hypoxic-ischemic encephalopathy (HIE) during therapeutic hypothermia. However, an optimal autoregulation monitoring algorithm has not been identified for neonatal clinical medicine. We tested whether the hemoglobin volume phase (HVP), hemoglobin volume (HVx), and pressure passivity index (PPI) identify changes in autoregulation that are associated with brain injury on MRI or death. The HVP measures the phase difference between a NIRS metric of cerebral blood volume, the total hemoglobin (THb), and mean arterial blood pressure (MAP) at the frequency …

Complete Corpus Callosotomy Using A Frameless Navigation Probe Through A Minicraniotomy In Children With Medically Refractory Epilepsy: A Case Series And Technical Note, Ahmed Belal, Gretchen Von Allmen, Indira Kommuru, Jeremy Lankford, John C Mosher, Manish Shah, Michael Funke, Michael Watkins, Rajan Patel

Faculty, Staff and Student Publications

BACKGROUND: Medically refractory epilepsy constitutes up to one-third of the epilepsy pediatric patients. Corpus callosotomy (CC) has been used for the treatment of medically refractory epilepsy in children with atonic seizures and generalized tonic-clonic (GTC) seizures. In this case series study, we are describing a novel technique for CC using the frameless navigation probe through a minicraniotomy.

METHODS: Thirteen pediatric patients with the diagnosis of medically refractory epilepsy predominantly GTC with drop attack who underwent extensive Phase I. An L-shape was done, then through a 4 × 3 cm craniotomy, we were able to open the interhemispheric fissure until the …

Cerebral Infarctions In An Infant With Covid-19 Delta Variant Infection And Disseminated Tuberculosis, Stuart Fraser, Misti Ellsworth, Norma Perez, Hunter Hamilton, Stephen Fletcher, Deborah Brown, Lakshmi Srivaths

Faculty, Staff and Student Publications

No abstract provided.

Neurology Resident Eeg Training In Europe, Fábio A Nascimento, Jay R Gavvala, Hatice Tankisi, Sándor Beniczky

Faculty, Staff and Student Publications

OBJECTIVE: To detail current European EEG education practices and compare European and U.S. EEG teaching systems.

METHODS: A 19-question online survey focused on EEG clinical practices and residency training was emailed to all 47 European Academy of Neurology Societies.

RESULTS: Thirty-two (68 %) out of the 47 Societies completed the survey. In half of countries, general neurologists are either among the providers or the only providers who typically read EEGs. The number of weeks devoted to EEG learning required to graduate ranged from none to 26, and it was expected to be continuous in one country. In most countries (n …

A T-Cell Engaging Bispecific Antibody With A Tumor-Selective Bivalent Folate Receptor Alpha Binding Arm For The Treatment Of Ovarian Cancer, Brian C Avanzino, Kirthana Prabhakar, Pranjali Dalvi, Sharon Hartstein, Hannes Kehm, Aarti Balasubramani, Andrew A Boudreau, Ben Buelow, Karen Chang, Laura M Davison, Suhasini Iyer, Vidyut Kalwit, Kristin Lewis Wilson, Harbani K Malik-Chaudhry, Will Pierson, Geovanni Pineda, Udaya S Rangaswamy, Sowmya Saiganesh, Ute Schellenberger, Harshad S Ugamraj, Rodolfovan D Yabut, Roland Buelow, Jocelyn Chapman, Nathan D Trinklein, Katherine E Harris

Faculty, Staff and Student Publications

The use of T-cell engagers (TCEs) to treat solid tumors is challenging, and several have been limited by narrow therapeutic windows due to substantial on-target, off-tumor toxicities due to the expression of low levels of target antigens on healthy tissues. Here, we describe TNB-928B, a fully human TCE that has a bivalent binding arm for folate receptor alpha (FRα) to selectively target FRα overexpressing tumor cells while avoiding the lysis of cells with low levels of FRα expression. The bivalent design of the FRα binding arm confers tumor selectivity due to low-affinity but high-avidity binding to high FRα antigen density …

A Hybrid Unsupervised And Supervised Learning Approach For Postictal Generalized Eeg Suppression Detection, Xiaojin Li, Yan Huang, Samden D Lhatoo, Shiqiang Tao, Laura Vilella Bertran, Guo-Qiang Zhang, Licong Cui

Faculty, Staff and Student Publications

Sudden unexpected death of epilepsy (SUDEP) is a catastrophic and fatal complication of epilepsy and is the primary cause of mortality in those who have uncontrolled seizures. While several multifactorial processes have been implicated including cardiac, respiratory, autonomic dysfunction leading to arrhythmia, hypoxia, and cessation of cerebral and brainstem function, the mechanisms underlying SUDEP are not completely understood. Postictal generalized electroencephalogram (EEG) suppression (PGES) is a potential risk marker for SUDEP, as studies have shown that prolonged PGES was significantly associated with a higher risk of SUDEP. Automated PGES detection techniques have been developed to efficiently obtain PGES durations for …

Interictal Localization Of The Epileptogenic Zone: Utilizing The Observed Resonance Behavior In The Spectral Band Of Surrounding Inhibition, Omar A Alamoudi, Adeel Ilyas, Sandipan Pati, Leon Iasemidis

Faculty, Staff and Student Publications

Introduction

The gold standard for identification of the epileptogenic zone (EZ) continues to be the visual inspection of electrographic changes around seizures’ onset by experienced electroencephalography (EEG) readers. Development of an epileptogenic focus localization tool that can delineate the EZ from analysis of interictal (seizure-free) periods is still an open question of great significance for improved diagnosis (e.g., presurgical evaluation) and treatment of epilepsy (e.g., surgical outcome).

Methods

We developed an EZ interictal localization algorithm (EZILA) based on novel analysis of intracranial EEG (iEEG) using a univariate periodogram-type power measure, a straight-forward ranking approach, a robust dimensional reduction method and …

Functional Mri Correlates Of Carbon Dioxide Chemosensing In Persons With Epilepsy, Johnson P Hampson, Nuria Lacuey, Mrs Sandhya Rani, Jaison S Hampson, Kristina A Simeone, Timothy A Simeone, Ponnada A Narayana, Louis Lemieux, Samden D Lhatoo

Faculty, Staff and Student Publications

OBJECTIVES: Sudden unexpected death in epilepsy (SUDEP) is a catastrophic epilepsy outcome for which there are no reliable premortem imaging biomarkers of risk. Percival respiratory depression is seen in monitored SUDEP and near SUDEP cases, and abnormal chemosensing of raised blood carbon dioxide (CO

METHODS: We analyzed fMRI BOLD activation and brain connectivity in 10 PWE and 10 age- and sex-matched HCs during precisely metered iso-oxic, hypercapnic breathing challenges. Segmented brainstem responses were of particular interest, along with characterization of functional connectivity metrics between these structures. Regional BOLD activations during hypercapnic challenges were convolved with hemodynamic responses, and the resulting …

Detecting Primary Progressive Aphasia Atrophy Patterns: A Comparison Of Visual Assessment And Quantitative Neuroimaging Techniques, Stephanie Franczak, Jessica Pommy, Greta Minor, Chandler Zolliecoffer, Manav Bhalla, Mohit Agarwal, Andrew Nencka, Yang Wang, Andrew Klein, Darren O'Neill, Jude Henry, Glass Umfleet

Faculty, Staff and Student Publications

BACKGROUND: There are now clinically available automated MRI analysis software programs that compare brain volumes of patients to a normative sample and provide

OBJECTIVE: To address this gap in the literature, we examined Neuroreader

METHODS: lvPPA or aMCI patients who underwent MRI with Neuroreader

RESULTS: Cohen's Kappa coefficients were significant in 10 of the 28 computations (

CONCLUSION: Overall, our results indicated moderate to low interrater reliability, and raters never agreed that left asymmetry was present. While lower

Accuracy Of The Australian National Subacute And Nonacute Patient Classification In Predicting Rehabilitation Length Of Stay For Stroke Survivors Who Are ≥65 Years Of Age And Have Lateropulsion, Jessica Nolan, Erin Godecke, Katrina Spilsbury, Andy Wu, Barbara Singer

IHR Papers and Journal Articles

Background

Lateropulsion is a common impairment after stroke. Regardless of stroke severity, functional recovery is slower in people with lateropulsion, resulting in requirement for longer rehabilitation duration. In Australia, inpatient rehabilitation funding is determined via the Australian National Sub-Acute and Non-Acute Patient Classification (AN-SNAP). AN-SNAP class is determined using age, diagnosis, weighted Functional Independence Measure (FIM) motor score, and FIM cognitive score.

Objectives

To explore accuracy of the AN-SNAP to predict length of stay (LOS) for people with poststroke lateropulsion.

Methods

A retrospective database audit was undertaken. AN-SNAP predicted LOS for each participant was calculated based on 2019 calendar year …

Impairment Of Autophagy After Spinal Cord Injury Potentiates Neuroinflammation And Motor Function Deficit In Mice, Yun Li, Zhuofan Lei, Rodney M Ritzel, Junyun He, Hui Li, Harry M C Choi, Marta M Lipinski, Junfang Wu

Faculty, Staff and Student Publications

Autophagy is a catabolic process that degrades cytoplasmic constituents and organelles in the lysosome, thus serving an important role in cellular homeostasis and protection against insults. We previously reported that defects in autophagy contribute to neuronal cell damage in traumatic spinal cord injury (SCI). Recent data from other inflammatory models implicate autophagy in regulation of immune and inflammatory responses, with low levels of autophagic flux associated with pro-inflammatory phenotypes. In the present study, we examined the effects of genetically or pharmacologically manipulating autophagy on posttraumatic neuroinflammation and motor function after SCI in mice.

Methods: Young adult male C57BL/6, CX3CR1-GFP, autophagy …

Anatomy And Function Of Ventral Tegmental Area Glutamate Neurons, Jing Cai, Qingchun Tong

Faculty, Staff and Student Publications

The ventral tegmental area (VTA) is well known for regulating reward consumption, learning, memory, and addiction behaviors through mediating dopamine (DA) release in downstream regions. Other than DA neurons, the VTA is known to be heterogeneous and contains other types of neurons, including glutamate neurons. In contrast to the well-studied and established functions of DA neurons, the role of VTA glutamate neurons is understudied, presumably due to their relatively small quantity and a lack of effective means to study them. Yet, emerging studies have begun to reveal the importance of glutamate release from VTA neurons in regulating diverse behavioral repertoire …

Recurrent Hgnet-Mn1 Altered (Astroblastoma Mn1-Altered) Of The Foramen Magnum: Case Report And Molecular Classification, Sricharan Gopakumar, Malcolm F Mcdonald, Himanshu Sharma, Claudio E Tatsui, Gregory N Fuller, Ganesh Rao

Faculty, Staff and Student Publications

Background: Astroblastoma is a rare primary brain tumor of unclear origin, often occurring in young patients less than 30-years-old. It typically arises supratentorially and is diagnosed based on histological features including vascular hyalinization and perivascular pseudorosettes. Recent molecular characterization of primary CNS high-grade neuroepithelial tumors with meningioma I alteration (HGNET-MN1) found that HGNET-MN1 and tumors with morphological signatures of astroblastoma clustered together. Further analysis revealed such astroblastomas have MN1 alteration and the 2021 WHO classification of tumors of the CNS now recognizes astroblastoma MN1-altered as a new entity.

Case description: Here, we present the case of …

Proceedings Of The 10th Annual Deep Brain Stimulation Think Tank: Advances In Cutting Edge Technologies, Artificial Intelligence, Neuromodulation, Neuroethics, Interventional Psychiatry, And Women In Neuromodulation, Joshua K Wong, Helen S Mayberg, Doris D Wang, R Mark Richardson, Casey H Halpern, Lothar Krinke, Mattia Arlotti, Lorenzo Rossi, Alberto Priori, Sara Marceglia, Ro'ee Gilron, James F Cavanagh, Jack W Judy, Svjetlana Miocinovic, Annaelle D Devergnas, Roy V Sillitoe, Stephanie Cernera, Carina R Oehrn, Aysegul Gunduz, Wayne K Goodman, Erika A Petersen, Helen Bronte-Stewart, Robert S Raike, Mahsa Malekmohammadi, David Greene, Petra Heiden, Huiling Tan, Jens Volkmann, Valerie Voon, Luming Li, Pankaj Sah, Terry Coyne, Peter A Silburn, Cynthia S Kubu, Anna Wexler, Jennifer Chandler, Nicole R Provenza, Sarah R Heilbronner, Marta San Luciano, Christopher J Rozell, Michael D Fox, Coralie De Hemptinne, Jaimie M Henderson, Sameer A Sheth, Michael S Okun

Faculty, Staff and Students Publications

The deep brain stimulation (DBS) Think Tank X was held on August 17–19, 2022 in Orlando FL. The session organizers and moderators were all women with the theme women in neuromodulation. Dr. Helen Mayberg from Mt. Sinai, NY was the keynote speaker. She discussed milestones and her experiences in developing depression DBS. The DBS Think Tank was founded in 2012 and provides an open platform where clinicians, engineers and researchers (from industry and academia) can freely discuss current and emerging DBS technologies as well as the logistical and ethical issues facing the field. The consensus among the DBS Think …

In Alzheimer-Prone Brain Regions, Metabolism And Risk-Gene Expression Are Strongly Correlated, Fengdan Ye, Quentin Funk, Elijah Rockers, Joshua M Shulman, Joseph C Masdeu, Belen Pascual

Duncan NRI Faculty and Staff Publications

Neuroimaging in the preclinical phase of Alzheimer’s disease provides information crucial to early intervention, particularly in people with a high genetic risk. Metabolic network modularity, recently applied to the study of dementia, is increased in Alzheimer’s disease patients compared with controls, but network modularity in cognitively unimpaired elderly with various risks of developing Alzheimer’s disease needs to be determined. Based on their 5-year cognitive progression, we stratified 117 cognitively normal participants (78.3 ± 4.0 years of age, 52 women) into three age-matched groups, each with a different level of risk for Alzheimer’s disease. From their fluorodeoxyglucose PET we constructed metabolic …

A Precision Medicine Agenda In Traumatic Brain Injury, Jovany Cruz Navarro, Lucido L Ponce Mejia, Claudia Robertson

Faculty, Staff and Students Publications

Traumatic brain injury remains a leading cause of death and disability across the globe. Substantial uncertainty in outcome prediction continues to be the rule notwithstanding the existing prediction models. Additionally, despite very promising preclinical data, randomized clinical trials (RCTs) of neuroprotective strategies in moderate and severe TBI have failed to demonstrate significant treatment effects. Better predictive models are needed, as the existing validated ones are more useful in prognosticating poor outcome and do not include biomarkers, genomics, proteonomics, metabolomics, etc. Invasive neuromonitoring long believed to be a "game changer" in the care of TBI patients have shown mixed results, and …

Krabbe Disease: A Personal Perspective And Hypothesis, Mohammad Rafi

Department of Neurology Faculty Papers

Introduction: Krabbe disease (KD) or globoid cell leukodystrophy (GLD) is one of the lysosomal disorders affecting central and peripheral nervous systems (CNS and PNS). It is caused by mutations on the galactocerebrosidase (GALC) gene. Affected individuals accumulate undegraded substrates and suffer from neuroinflammation. Methods: Hematopoietic stem cell transplantation (HSCT) has been partially successful in treating patients with KD when accomplished prior to the onset of symptoms. The success is credited to the ability of the hematopoietic stem cells in providing some GALC enzyme to the CNS and eradicating potential neuroinflammation. Combination of the HSCT with some other GALC-providing strategies has …

Introducing A Real-Time Advanced Eye Movements Analysis Pipeline, Gavindya Jayawardana

Computer Science Faculty Publications

Real-Time Advanced Eye Movements Analysis Pipeline (RAEMAP) is an advanced pipeline to analyze traditional positional gaze measurements as well as advanced eye gaze measurements. The proposed implementation of RAEMAP includes real-time analysis of fixations, saccades, gaze transition entropy, and low/high index of pupillary activity. RAEMAP will also provide visualizations of fixations, fixations on AOIs, heatmaps, and dynamic AOI generation in real-time. This paper outlines the proposed architecture of RAEMAP.

Typical Sounding Atypical Diagnostic Conundrum -- A Rare Case Of Mycobacterium Avium Complex (Mac) Presenting With Multiple Cranial Nerve Involvement, Ashwini Kini, Karl Echiverri, Edward J. Escott, Padmaja Sudhakar

Neurology Faculty Publications

Background

MAC infections rarely cause symptomatic systemic infection in immunocompetent healthy individuals. This case brings to light a rare such presentation that gives us a learning point about keeping a strong pre-clinical suspicion for this condition in patients whom lung imaging reveals suspicious cavitary lesions. Starting empiric therapy while awaiting culture results may be considered after weighing risks and benefits in order to achieve the morbidity and mortality associated with the disease.

Case report

A 54 year-old white male presented for evaluation of progressively worsening vertigo, imbalance, vertical diplopia, facial diplegia, bilateral hyperacusis followed by hearing loss, dysphagia, and dysarthria …

Genetic Contributors Of Incident Stroke In 10,700 African Americans With Hypertension: A Meta-Analysis From The Genetics Of Hypertension Associated Treatments And Reasons For Geographic And Racial Differences In Stroke Studies, Nicole D. Armstrong, Vinodh Srinivasasainagendra, Amit Patki, Rikki M. Tanner, Bertha A. Hidalgo, Hemant K. Tiwari, Nita A. Limdi, Ethan M. Lange, Leslie A. Lange, Donna K. Arnett, Marguerite R. Irvin

Epidemiology and Environmental Health Faculty Publications

Background: African Americans (AAs) suffer a higher stroke burden due to hypertension. Identifying genetic contributors to stroke among AAs with hypertension is critical to understanding the genetic basis of the disease, as well as detecting at-risk individuals.

Methods: In a population comprising over 10,700 AAs treated for hypertension from the Genetics of Hypertension Associated Treatments (GenHAT) and Reasons for Geographic and Racial Differences in Stroke (REGARDS) studies, we performed an inverse variance-weighted meta-analysis of incident stroke. Additionally, we tested the predictive accuracy of a polygenic risk score (PRS) derived from a European ancestral population in both GenHAT and REGARDS AAs …

Intensive Care Bundle With Blood Pressure Reduction In Acute Cerebral Hemorrhage Trial (Interact3): Study Protocol For A Pragmatic Stepped-Wedge Cluster-Randomized Controlled Trial, Lili Song, Xin Hu, Lu Ma, Xiaoying Chen, Menglu Ouyang, Laurent Billot, Qiang Li, Paula Muñoz-Venturelli, Carlos Abanto, Mohammad Wasay

Section of Neurology

Background: Early intensive blood pressure (BP) lowering remains the most promising treatment for acute intracerebral hemorrhage (ICH), despite discordant results between clinical trials and potential variation in the treatment effects by approach to control BP. As the third in a series of clinical trials on this topic, the INTEnsive care bundle with blood pressure Reduction in Acute Cerebral hemorrhage Trial (INTERACT3) aims to determine the effectiveness of a goal-directed care bundle protocol of early physiological control (intensive BP lowering, glycemic control, and pyrexia treatment) and reversal of anticoagulation, in acute ICH.
Methods: INTERACT3 is a pragmatic, international, multicenter, stepped-wedge (4 …

Filled/Non-Filled Pairs: An Empirical Challenge To The Integrated Information Theory Of Consciousness, Amber R. Hopkins, Kelvin J. Mcqueen

Philosophy Faculty Articles and Research

Perceptual filling-in for vision is the insertion of visual properties (e.g., color, contour, luminance, or motion) into one’s visual field, when those properties have no corresponding retinal input. This paper introduces and provides preliminary empirical support for filled/non-filled pairs, pairs of images that appear identical, yet differ by amount of filling-in. It is argued that such image pairs are important to the experimental testing of theories of consciousness. We review recent experimental research and conclude that filling-in involves brain activity with relatively high integrated information (Φ) compared to veridical visual perceptions. We then present filled/non-filled pairs as …

A Literature Review Of Mild Traumatic Brain Injury Research, Brindlea Peterson

Honors Theses

Mild traumatic brain injuries (mTBI) are a type of traumatic brain injury (TBI) usually sustained from an injury to the head and are hard to diagnose due to the lack of physical evidence seen in diagnostic radiology. The estimated worldwide rate of incidence each year is 42 million, making mTBIs rather common. In the US armed forces, that rate of incidence is even higher due to the dangerous nature of the work being done. Many complications can come from not properly addressing an mTBI after it happens which makes being able to determine an appropriate return-to-play or return-to-duty time very …

Transition Program To Postsecondary Education For Students With Traumatic Brain Injury, Eung Gyeong Park, Susan Macdermott, Becki Cohill, Karen Park

Fall 2021 Virtual OTD Capstone Symposium

Traumatic brain injury (TBI) is a condition that occurs due to an external blow to the skull that damages the brain (Carulli et al., 2018). According to the Centers for Disease Control and Prevention, 2.5 million TBI have been reported each year. Many students with TBI face physical, cognitive, environmental, and social challenges in their transition to post-secondary education (Bedell et al., 2017). Individuals with TBI experience social and behavioral changes that interfere with their participation as they face difficulties initiating, regulating their social behaviors, and experiencing increased introversion (Bedell et al., 2017). Physical challenges include fatigue, headaches, sleep disturbances, …

Dementia Risk Reduction: Why Haven't The Pharmacological Risk Reduction Trials Worked? An In-Depth Exploration Of Seven Established Risk Factors, Ruth Peters, John Breitner, Sarah James, Gregory A. Jicha, Pierre-Francois Meyer, Marcus Richards, A. David Smith, Hussein N. Yassine, Erin L. Abner, Atticus H. Hainsworth, Patrick G. Kehoe, Nigel Beckett, Christopher Weber, Craig Anderson, Kaarin J. Anstey, Hiroko H. Dodge

Neurology Faculty Publications

Identifying the leading health and lifestyle factors for the risk of incident dementia and Alzheimer's disease has yet to translate to risk reduction. To understand why, we examined the discrepancies between observational and clinical trial evidence for seven modifiable risk factors: type 2 diabetes, dyslipidemia, hypertension, estrogens, inflammation, omega-3 fatty acids, and hyperhomocysteinemia. Sample heterogeneity and paucity of intervention details (dose, timing, formulation) were common themes. Epidemiological evidence is more mature for some interventions (eg, non-steroidal anti-inflammatory drugs [NSAIDs]) than others. Trial data are promising for anti-hypertensives and B vitamin supplementation. Taken together, these risk factors highlight a future need …

Reduced Risk Of Reoperations With Modern Deep Brain Stimulator Systems: Big Data Analysis From A United States Claims Database, Chengyuan Wu, Sean J Nagel, Rahul Agarwal, Monika Pötter-Nerger, Wolfgang Hamel, Ashwini Sharan, Allison T Connolly, Binith Cheeran, Paul S Larson

Department of Neurosurgery Faculty Papers

Objective: There have been significant improvements in the design and manufacturing of deep brain stimulation (DBS) systems, but no study has considered the impact of modern systems on complications. We sought to compare the relative occurrence of reoperations after de novo implantation of modern and traditional DBS systems in patients with Parkinson's disease (PD) or essential tremor (ET) in the United States.

Design: Retrospective, contemporaneous cohort study.

Setting: Multicenter data from the United States Centers for Medicare and Medicaid Services administrative claims database between 2016 and 2018.

Participants: This population-based sample consisted of 5,998 patients implanted with a DBS system, …

Bi-Allelic Variants In Ogdhl Cause A Neurodevelopmental Spectrum Disease Featuring Epilepsy, Hearing Loss, Visual Impairment, And Ataxia, Zheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca, Reza Maroofian, Isabelle Schrauwen, Manuela Pendziwiat, Sunhee Jung, Elizabeth Bhoj, Pasquale Striano, Kshitij Mankad, Barbara Vona, Sanmati Cuddapah, Anja Wagner, Javeria Raza Alvi, Elham Davoudi-Dehaghani, Mohammad-Sadegh Fallah, Srinitya Gannavarapu, Costanza Lamperti, Andrea Legati, Bibi Nazia Murtaza, Muhammad Shahid Nadeem, Mujaddad Ur Rehman, Kolsoum Saeidi, Vincenzo Salpietro, Sarah Von Spiczak, Abigail Sandoval, Sirous Zeinali, Massimo Zeviani, Adi Reich, Synaps Study Group, University Of Washington Center For Mendelian Genomics, Cholsoon Jang, Ingo Helbig, Tahsin Stefan Barakat, Daniele Ghezzi, Suzanne M Leal, Yvonne Weber, Henry Houlden, Wan Hee Yoon

Faculty, Staff and Students Publications

The 2-oxoglutarate dehydrogenase-like (OGDHL) protein is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism. OGDHL expression is restricted mainly to the brain in humans. Here, we report nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum. The variants include three homozygous missense variants (p.Pro852Ala, p.Arg244Trp, and p.Arg299Gly), three compound heterozygous single-nucleotide variants (p.Arg673Gln/p.Val488Val, p.Phe734Ser/p.Ala327Val, and p.Trp220Cys/p.Asp491Val), one homozygous frameshift variant (p.Cys553Leufs∗16), and one homozygous stop-gain variant (p.Arg440Ter). To support the …

The Truth About Brain Cells: Is Adult Neurogenesis Possible?, Ekene Nnagha, Queen-Helen Egbai, Ahtesham Khizar

Pakistan Journal of Neurological Sciences (PJNS)

Brain cells regeneration involves renewal and repair of neurons and other cells in the brain, with restoration of their functions. Although this phenomenon was thought to end in early childhood, research has proven that adult neurogenesis is highly possible with some limitations. Regeneration of axons in the central nervous system is very slow and more complicated than neuronal regeneration, especially regeneration of peripheral nerves. Brain cell regeneration in the adult brain can help in recovery of damaged brain cells and correct cellular and brain tissue dysfunction that are commonly seen in some neurological disorders such as Stroke, Traumatic Brain Injury …

Clinical Spectrum And Eeg Findings Of Non-Convulsive Status Epilepticus In Children, Shaila Ali, Natasha Ghani, Ather Khalily, Zia-Ur- Rehman, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

OBJECTIVE:

To determine the clinical spectrum and EEG findings ofnon-convulsive status epilepticus in children. METHODS: A total of 38 children were included in this prospective cross sectional study, having EEG suggestive of NCSE after taking informed consent from guardians, keeping EEG as gold standard tracings were reviewed according to criteria of non-convulsive status epilepticus. Their clinical features were also noted leading to non- convulsive status epilepticus. Diagnostic workup will be done to find out the underlying cause, according to the suspected etiology of non-convulsive status epilepticus.

RESULTS: There were 26 male and 12 female patients, with ratio of 2:1. …

Frequency And Types Of Cerebral Infarctions On Brain Imaging In 2257 Hospitalized Patients With Covid-19, Raima Kaleemi, Zainab Rauf, Muhammad Azeemuddin, Muhammad Wasay

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT BACKGROUND AND OBJECTIVE:

SARS-COV (COVID-19) virus is not solely a pulmonary disease but affect multiorgan system including the brain. The objective of this study was to see the frequency of neuroimaging findings especially cerebral infarcts in our covid population. METHODS: This study is a retrospective observational study conducted in a large tertiary care hospital which was also a Covid center from March 1, 2020 to December 30, 2020.The frequency of neurological manifestations in COVID19 positive patients admitting in the hospital was observed through charts review. All scans were reviewed by two trained neuroradiologists. RESULTS: Total of 2257 patients enrolled …