Neurology Commons^™

A Very Rare Cause Of Pancytopenia., Talal Alzahrani, Dana Kay, Kelly Zhang, Linda Lesky

GW Research Days 2015

INTRODUCTION:

Levetiracetam (Keppra) is a pyrrolidone derivative and acts as an anti-epileptic medication by modulating neurotransmitter release. Pancytopenia is a very rare adverse effect caused by levetiracetam. There are fewer than four case reports in the medical literature discussing the association between levetiracetam and pancytopenia. The pathogenesis behind this relationship is unclear. Therefore, this case will serve to spread awareness of a rare cause of pancytopenia and to hypothesize how this medication causes pancytopenia.

CASE REPORT:

A brain MRI of a 79-year-old female with a medical history of hypertension, Type II diabetes, and CVA revealed a right temporoparietal mass. She …

Ubiquitous L1 Mosaicism In Hippocampal Neurons., Kyle R. Upton, Daniel J. Gerhardt, J. Samuel Jesuadian, Sandra R. Richardson, Francisco J. Sánchez-Luque, Gabriela O. Bodea, Adam D. Ewing, Carmen Salvador-Palomeque, Marjo S. Van Der Knaap, Paul M. Brennan, Adeline Vanderver, Geoffrey J. Faulkner

Neurology Faculty Publications

Somatic LINE-1 (L1) retrotransposition during neurogenesis is a potential source of genotypic variation among neurons. As a neurogenic niche, the hippocampus supports pronounced L1 activity. However, the basal parameters and biological impact of L1-driven mosaicism remain unclear. Here, we performed single-cell retrotransposon capture sequencing (RC-seq) on individual human hippocampal neurons and glia, as well as cortical neurons. An estimated 13.7 somatic L1 insertions occurred per hippocampal neuron and carried the sequence hallmarks of target-primed reverse transcription. Notably, hippocampal neuron L1 insertions were specifically enriched in transcribed neuronal stem cell enhancers and hippocampus genes, increasing their probability of functional relevance. In …

The Emerging Role Of Ng2 In Pediatric Diffuse Intrinsic Pontine Glioma., Sridevi Yadavilli, Joseph Scafidi, Oren J. Becher, Amanda M. Saratsis, Rebecca L. Hiner, Madhuri Kambhampati, Santi Mariarita, Tobey J. Macdonald, Kari-Elise Codispoti, Suresh N. Magge, Jyoti K. Jaiswal, Roger J. Packer, Javad Nazarian

Neurology Faculty Publications

Diffuse intrinsic pontine gliomas (DIPGs) have a dismal prognosis and are poorly understood brain cancers. Receptor tyrosine kinases stabilized by neuron-glial antigen 2 (NG2) protein are known to induce gliomagenesis. Here, we investigated NG2 expression in a cohort of DIPG specimens (n= 50). We demonstrate NG2 expression in the majority of DIPG specimens tested and determine that tumors harboring histone 3.3 mutation express the highest NG2 levels. We further demonstrate that microRNA 129-2 (miR129-2) is downregulated and hypermethylated in human DIPGs, resulting in the increased expression of NG2. Treatment with 5-Azacytidine, a methyltransferase inhibitor, results in NG2 downregulation in DIPG …

Long-Term Treatment With Responsive Brain Stimulation In Adults With Refractory Partial Seizures., Gregory K Bergey, Martha J Morrell, Eli M Mizrahi, Alica Goldman, David King-Stephens, Donald C Shields, +34 Additional Authors

Neurological Surgery Faculty Publications

OBJECTIVE: The long-term efficacy and safety of responsive direct neurostimulation was assessed in adults with medically refractory partial onset seizures.

METHODS: All participants were treated with a cranially implanted responsive neurostimulator that delivers stimulation to 1 or 2 seizure foci via chronically implanted electrodes when specific electrocorticographic patterns are detected (RNS System). Participants had completed a 2-year primarily open-label safety study (n = 65) or a 2-year randomized blinded controlled safety and efficacy study (n = 191); 230 participants transitioned into an ongoing 7-year study to assess safety and efficacy.

RESULTS: The average participant was 34 (±11.4) years old with …

Neurosurgery Concepts: Key Perspectives On Dendritic Cell Vaccines, Metastatic Tumor Treatment, And Radiosurgery, Gordon Li, Jonathan H. Sherman, Jin Mo Cho, Michael Lim, Alexander A. Khalessi, Chaim B. Colen, Chae Yong Kim, Viincent Yat Wang, Gabriel Zada, Zachary A. Smith, Isaac Yang

Neurological Surgery Faculty Publications

Background: This is a laboratory study to investigate the effect of adding brain-derived-neurotrophic factor (BDNF) in a poly (N-isopropylacrylamide-g-poly (ethylene glycol) scaffold and its effect on spinal cord injury in a rat model.

Methods: This is a laboratory investigation of a spinal cord injury in a rat model. A dorsolateral funiculotomy was used to disrupt the dorsolateral funiculus and rubrospinal tract. Animals were then injected with either the scaffold polymer or scaffold polymer with BDNF. Postoperatively, motor functions were assessed with single pellet reach to grasp task, stair case reaching task and cylinder task. Histological study …

Principles Of Using Cold Atmospheric Plasma Stimulated Media For Cancer Treatment, Dayun Yan, Annie Talbot, Niki Nourmohammadi, Xiaoqian Cheng, Jerome Canady, Jonathan H. Sherman, Michael Keidar

Neurological Surgery Faculty Publications

To date, the significant anti-cancer capacity of cold atmospheric plasma (CAP) on dozens of cancer cell lines has been demonstrated in vitro and in mice models. Conventionally, CAP was directly applied to irradiate cancer cells or tumor tissue. Over past three years, the CAP irradiated media was also found to kill cancer cells as effectively as the direct CAP treatment. As a novel strategy, using the CAP stimulated (CAPs) media has become a promising anti-cancer tool. In this study, we demonstrated several principles to optimize the anti-cancer capacity of the CAPs media on glioblastoma cells and breast cancer cells. Specifically, …

The Piriform, Perirhinal, And Entorhinal Cortex In Seizure Generation, Marta S. Vismer, Patrick A. Forcelli, Mark D. Skopin, Karen Gale, Mohamad Z. Koubeissi

Neurology Faculty Publications

Understanding neural network behavior is essential to shed light on epileptogenesis and seizure propagation. The interconnectivity and plasticity of the limbic and cortical regions of the mammalian brain provide the substrate for the hypersynchrony and hyperexcitability associated with epilepsy and seizure activity. Recurrent unprovoked seizures are the hallmark of epilepsy, and limbic epilepsy is the most common type of medically-intractable focal epilepsy in adolescents and adults that necessitates surgical evaluation. In this review, we describe the role and relationships among the piriform (PIRC), perirhinal (PRC), and entorhinal cortex (ERC) in seizure-generation and epilepsy. The inherent function, anatomy, and histological composition …

Proteomic Profiling Of High Risk Medulloblastoma Reveals Functional Biology, Jerome A. Staal, Ling San Lau, Huizhen Zhang, Wendy J. Ingram, Andrew R. Hallahan, Roger J. Packer, Brian R. Rood, Kristy J. Brown, +6 Additional Authors

Neurology Faculty Publications

Genomic characterization of medulloblastoma has improved molecular risk classification but struggles to define functional biological processes, particularly for the most aggressive subgroups. We present here a novel proteomic approach to this problem using a reference library of stable isotope labeled medulloblastoma-specific proteins as a spike-in standard for accurate quantification of the tumor proteome. Utilizing high-resolution mass spectrometry, we quantified the tumor proteome of group 3 medulloblastoma cells and demonstrate that high-risk MYC amplified tumors can be segregated based on protein expression patterns. We cross-validated the differentially expressed protein candidates using an independent transcriptomic data set and further confirmed them in …

The Piriform, Perirhinal, And Entorhinal Cortex In Seizure Generation., Marta S Vismer, Patrick A Forcelli, Mark D Skopin, Karen Gale, Mohamad Z. Koubeissi

Neurology Faculty Publications

Understanding neural network behavior is essential to shed light on epileptogenesis and seizure propagation. The interconnectivity and plasticity of mammalian limbic and neocortical brain regions provide the substrate for the hypersynchrony and hyperexcitability associated with seizure activity. Recurrent unprovoked seizures are the hallmark of epilepsy, and limbic epilepsy is the most common type of medically-intractable focal epilepsy in adolescents and adults that necessitates surgical evaluation. In this review, we describe the role and relationships among the piriform (PIRC), perirhinal (PRC), and entorhinal cortex (ERC) in seizure-generation and epilepsy. The inherent function, anatomy, and histological composition of these cortical regions are …

Reduced Functional Connectivity Of Default Mode And Set-Maintenance Networks In Ornithine Transcarbamylase Deficiency., Ileana Pacheco-Colón, Stuart D. Washington, Courtney Sprouse, Guy Helman, Andrea L. Gropman, John W. Vanmeter

Neurology Faculty Publications

BACKGROUND AND PURPOSE: Ornithine transcarbamylase deficiency (OTCD) is an X-chromosome linked urea cycle disorder (UCD) that causes hyperammonemic episodes leading to white matter injury and impairments in executive functioning, working memory, and motor planning. This study aims to investigate differences in functional connectivity of two resting-state networks-default mode and set-maintenance-between OTCD patients and healthy controls.

METHODS: Sixteen patients with partial OTCD and twenty-two control participants underwent a resting-state scan using 3T fMRI. Combining independent component analysis (ICA) and region-of-interest (ROI) analyses, we identified the nodes that comprised each network in each group, and assessed internodal connectivity.

RESULTS: Group comparisons revealed …

Lateralization Of Mesial Temporal Lobe Epilepsy With Chronic Ambulatory Electrocorticography, David King-Stephens, Emily Mirro, Peter B. Weber, Kenneth D. Laxer, Paul C. Van Ness, Donald C. Shields, +24 Additional Authors

Neurological Surgery Faculty Publications

Objective

Patients with suspected mesial temporal lobe (MTL) epilepsy typically undergo inpatient video–electroencephalography (EEG) monitoring with scalp and/or intracranial electrodes for 1 to 2 weeks to localize and lateralize the seizure focus or foci. Chronic ambulatory electrocorticography (ECoG) in patients with MTL epilepsy may provide additional information about seizure lateralization. This analysis describes data obtained from chronic ambulatory ECoG in patients with suspected bilateral MTL epilepsy in order to assess the time required to determine the seizure lateralization and whether this information could influence treatment decisions.

Methods

Ambulatory ECoG was reviewed in patients with suspected bilateral MTL epilepsy who were …

Epidural Steroid Injections Compared With Gabapentin For Lumbosacral Radicular Pain: Multicenter Randomized Double Blind Comparative Efficacy Study, Steven P. Cohen, Steven Hanling, Mark C. Bicket, Ronald L. White, Elias Velzi, Connie Kurihara, Zirong Zhao, Salim Hayek, Kevin B. Guthmiller, Scott R. Griffith, Vitaly Gordin, Mirinda Anderson White, Yakov Vorobeychik, Paul F. Pasquina

Neurology Faculty Publications

Objective To evaluate whether an epidural steroid injection or gabapentin is a better treatment for lumbosacral radiculopathy.

Design A multicenter randomized study conducted between 2011 and 2014. Computer generated randomization was stratified by site. Patients and evaluating physicians were blinded to treatment outcomes.

Settings Eight military, Veterans Administration, and civilian hospitals.

Participants 145 people with lumbosacral radicular pain secondary to herniated disc or spinal stenosis for less than four years in duration and in whom leg pain is as severe or more severe than back pain.

Interventions Participants received either epidural steroid injection plus placebo pills or sham injection plus …

Anesthesia For Deep Brain Stimulation In Traumatic Brain Injury-Induced Hemidystonia, Jill M. Jani, Chima O. Oluigbo, Srijaya K. Reddy

Neurological Surgery Faculty Publications

Deep brain stimulation in an awake patient presents several unique challenges to the anesthesiologist. It is important to understand the various stages of the procedure and the complexities of anesthetic management in order to have a successful surgical outcome and provide a safe environment for the patient.

Controversial Neuroendoscopic Monro Foraminoplasty In The Management Of Isolated Lateral Ventricle In An Adult, Max O. Krucoff, Moshe Chinn, Parker Babington, Zachary N. Litvack

Neurological Surgery Faculty Publications

This report describes the clinical presentation, differential diagnosis, imaging characteristics, and current literature regarding the minimally invasive neuroendoscopic treatment of a rare condition: idiopathic unilateral hydrocephalus presenting late in adulthood. This paper also addresses the current controversy regarding septum pellucidotomy and/or Monro foraminoplasty as mono- or dual therapies for UH. A 63 year old African American female presented with headaches, blurry vision, and gait instability for six months. She was referred for neurosurgical consultation after an MRI demonstrated enlargement of the right lateral ventricle with left septal deviation. The patient underwent endoscopic transventricular fenestration of an idiopathic membrane occluding the …

A Dietary Intervention For Chronic Diabetic Neuropathy Pain: A Randomized Controlled Pilot Study, A. E. Bunner, C. L. Wells, J. Gonzales, U. Agarwal, Elham Bayat, Neal D. Barnard

Neurology Faculty Publications

Background:

Diabetic neuropathy is a common and often debilitating condition for which available treatments are limited. Because a low-fat plant-based diet has been shown to improve glycemic control in individuals with type 2 diabetes, we hypothesized that such a diet would reduce painful symptoms of diabetic neuropathy.

Methods:

In this 20-week pilot study, individuals with type 2 diabetes and painful diabetic neuropathy were randomly assigned to two groups. The intervention group was asked to follow a low-fat, plant-based diet, with weekly classes for support in following the prescribed diet, and to take a vitamin B12 supplement. The control group was …

Effect Of Cold Plasma On Glial Cell Morphology Studied By Atomic Force Microscopy., Nina Recek, Xiaoqian Cheng, Michael Keidar, Uros Cvelbar, Alenka Vesel, Miran Mozetic, Jonathan Sherman

Neurological Surgery Faculty Publications

The atomic force microscope (AFM) is broadly used to study the morphology of cells. The morphological characteristics and differences of the cell membrane between normal human astrocytes and glial tumor cells are not well explored. Following treatment with cold atmospheric plasma, evaluation of the selective effect of plasma on cell viability of tumor cells is poorly understood and requires further evaluation. Using AFM we imaged morphology of glial cells before and after cold atmospheric plasma treatment. To look more closely at the effect of plasma on cell membrane, high resolution imaging was used. We report the differences between normal human …

Genetic Modifiers Of Duchenne Muscular Dystrophy And Dilated Cardiomyopathy., Andrea Barp, Luca Bello, Luisa Politano, Paola Melacini, Chiara Calore, Eric P. Hoffman, +16 Additional Authors

Genomics and Precision Medicine Faculty Publications

OBJECTIVE: Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and the VTTT/IAAM haplotype in LTBP4) also modify DCM onset.

METHODS: A multicentric cohort of 178 DMD patients was genotyped by TaqMan assays. We performed a time-to-event analysis of DCM onset, with age as time variable, and finding of left ventricular ejection fraction < 50% and/or end diastolic volume > 70 mL/m2 as …

Cervical Instability In Klippel-Feil Syndrome: Case Report And Review Of The Literature, Aaron Wessell, Peter Derosa, Abraham Cherrick, Jonathan H. Sherman

Neurological Surgery Faculty Publications

Background

The authors present a case of cervical myelopathy and radiculopathy in the setting of multiple Klippel-Feil syndrome abnormalities treated surgically with a single-level C3–C4 anterior cervical discectomy and fusion. We discuss the clinical presentation, radiographic findings, and various treatment options for cervical spine abnormalities in Klippel-Feil syndrome.

Case Presentation

This 22-year-old female with Klippel-Feil syndrome presented with intermittent neck pain, left upper extremity weakness, and paresthesias. Preoperative MRI, CT, and X-rays of the cervical spine revealed anterolisthesis at C3/4 with unstable movement on flexion and extension imaging. In addition, there were multiple segmental fusion abnormalities including hemivertebrae and other …

Levetiracetam-Induced Pancytopenia., Talal Alzahrani, Dana Kay, Saeed A. Alqahtani, Yamane Makke, Linda Lesky, Mohamad Z. Koubeissi

Neurology Faculty Publications

Pancytopenia is a rare side effect of levetiracetam (LEV) that is associated with severe morbidity that requires hospitalization. Here, we report a patient with a right temporoparietal tumor who underwent a temporal craniotomy with resection of the mass and was started on LEV for seizure prophylaxis per the neurosurgery local protocol. The patient developed LEV-induced pancytopenia, which was successfully managed by discontinuation of this medication. Our report aims to increase awareness of this rare cause of pancytopenia among clinicians.

Adar1 Facilitates Hiv-1 Replication In Primary Cd4+ T Cells., Eloy Cuadrado, Thijs Booiman, John L Van Hamme, Machiel H Jansen, Karel A Van Dort, Adeline Vanderver, Gillian I Rice, Yanick J Crow, Neeltje A Kootstra, Taco W Kuijpers

Neurology Faculty Publications

Unlike resting CD4+ T cells, activated CD4+T cells are highly susceptible to infection of human immunodeficiency virus 1 (HIV-1). HIV-1 infects T cells and macrophages without activating the nucleic acid sensors and the anti-viral type I interferon response. Adenosine deaminase acting on RNA 1 (ADAR1) is an RNA editing enzyme that displays antiviral activity against several RNA viruses. Mutations in ADAR1 cause the autoimmune disorder Aicardi-Goutieères syndrome (AGS). This disease is characterized by an inappropriate activation of the interferon-stimulated gene response. Here we show that HIV-1 replication, in ADAR1-deficient CD4+T lymphocytes from AGS patients, is blocked at the level of …

Mitral Subvalvular Aneurysm In A Patient With Chagas Disease And Recurrent Episodes Of Ventricular Tachycardia., Tereza Augusta Grillo, Guilherme Rafael S Athayde, Ana Flávia L Belfort, Reynaldo C Miranda, Andrea Z. Beaton, Bruno R Nascimento

Neurology Faculty Publications

Subvalvular left ventricular aneurysm is a rare disease of obscure origin suggesting unique causes such as congenital, traumatic, and inflammatory or infectious diseases. Its mortality is closely related to heart failure, mitral insufficiency, thromboembolic phenomena, and cardiac arrhythmias. Although association with coronary artery disease is not described, the compression of epicardial vessels by the aneurysm may lead to ischemic manifestations. We report here a case of mitral subvalvular left ventricular aneurysm of probable chagasic origin, in a patient with normal left ventricular function evolving with repeated episodes of monomorphic ventricular tachycardia, despite noninducible electrophysiological testing and the use of optimal …

Serum Metabolomic Response Of Myasthenia Gravis Patients To Chronic Prednisone Treatment, Manjistha Sengupta, Amrita Cheema, Henry J. Kaminski, Linda Louise Kusner

Neurology Faculty Publications

Prednisone is often used for the treatment of autoimmune and inflammatory diseases but they suffer from variable therapeutic responses and significant adverse effects. Serum biological markers that are modulated by chronic corticosteroid use have not been identified. Myasthenia gravis is an autoimmune neuromuscular disorder caused by antibodies directed against proteins present at the post-synaptic surface of neuromuscular junction resulting in weakness. The patients with myasthenia gravis are primarily treated with prednisone. We analyzed the metabolomic profile of serum collected from patients prior to and after 12 weeks of prednisone treatment during a clinical trial. Our aim was to identify metabolites …

Quantitative Ultrasound: Measurement Considerations For The Assessment Of Muscular Dystrophy And Sarcopenia, Michael O. Harris-Love, Reza Monfaredi, Catheeja Ismail, Marc R. Blackman, Kevin Cleary

Exercise and Nutrition Sciences Faculty Publications

Diagnostic musculoskeletal ultrasound has potential clinical utility in characterizing pathological muscle tissue. Sonography has been long proposed as method of assessing muscle damage due to neuromuscular diseases such as muscular dystrophy, and more recently, changes in body and tissue composition associated with muscle wasting disorders such as sarcopenia. The use of quantitative ultrasound as an adjunct diagnostic procedure has different technical challenges than the traditional use of ultrasound in clinical medicine. Operator-dependent technique and variation are critical considerations when obtaining measures of echointensity (i.e., tissue composition estimates) and tissue dimensions (i.e., muscle thickness) – key elements of the ultrasound assessment …

Vulnerability Of The Ventral Language Network In Children With Focal Epilepsy, Louise J. Croft, Torsten Baldeweg, Leigh Sepeta, Lauren Zimmaro, Madison M. Berl, William D. Gaillard

Neurology Faculty Publications

Children with focal epilepsy are at increased risk of language impairment, yet the neural substrate of this dysfunction is not yet known. Using functional magnetic resonance imaging we investigated the impact of focal epilepsy on the developing language system using measures of network topology (spatial organization of activation) and synchrony (functional connectivity). We studied healthy children (n = 48, 4–12 years, 24 females) and children with focal epilepsy (n = 21, 5–12 years, nine females) with left hemisphere language dominance. Participants performed an age-adjusted auditory description decision task during functional magnetic resonance imaging, to identify perisylvian language regions. …

Medial Temporal Lobe Roles In Human Path Integration, Naohide Yamamoto, John W. Philbeck, Adam J. Woods, Daniel A. Gajewski, Joeanna C. Arthur, Samuel J. Potolicchio, Lucien M. Levy, Anthony J. Caputy

Neurological Surgery Faculty Publications

Path integration is a process in which observers derive their location by integrating self-motion signals along their locomotion trajectory. Although the medial temporal lobe (MTL) is thought to take part in path integration, the scope of its role for path integration remains unclear. To address this issue, we administered a variety of tasks involving path integration and other related processes to a group of neurosurgical patients whose MTL was unilaterally resected as therapy for epilepsy. These patients were unimpaired relative to neurologically intact controls in many tasks that required integration of various kinds of sensory self-motion information. However, the same …

International Telemedicine Consultations For Neurodevelopmental Disabilities, Phillip L. Pearl, Craig A. Sable, Sarah Helen Evans, Joseph Knight, Parker Cunningham, Gaetano R. Lotrecchiano, Andrea L. Gropman, Sheela Stuart, Penny J. Glass, Anne Conway, Issam Ramadan, Tania Paiva, Mark L. Batshaw, Roger J. Packer

Neurology Faculty Publications

Background: A telemedicine program was developed between the Children's National Medical Center (CNMC) in Washington, DC, and the Sheikh Khalifa Bin Zayed Foundation in the United Arab Emirates (UAE). A needs assessment and a curriculum of on-site training conferences were devised preparatory to an ongoing telemedicine consultation program for children with neurodevelopmental disabilities in the underserved eastern region of the UAE.

Materials and Methods: Weekly telemedicine consultations are provided by a multidisciplinary faculty. Patients are presented in the UAE with their therapists and families. Real-time (video over Internet protocol; average connection, 768 kilobits/s) telemedicine conferences are held weekly following previews …

Gaps And Opportunities In Refractory Status Epilepticus Research In Children: A Multi-Center Approach By The Pediatric Status Epilepticus Research Group (Pserg), Ivan Sanchez Fernandez, Nicholas S. Abend, Satish Agadi, Sookee An, Ravindra Arya, Jessica L. Carpenter, Kevin E. Chapman, William D. Gaillard, Tracy A. Glauser, David B. Golstein, Joshua L. Goldstein, Howard P. Goodkin, Cecil D. Hahn, Erin L. Heinzen, Mohamad A. Mikati, Katrina Peariso, John P. Pestian, Margie Ream, James J. Riviello, Robert C. Tasker, Korwyn Williams, Tobias Loddenkemper

Neurology Faculty Publications

PURPOSE:

Status epilepticus (SE) is a life-threatening condition that can be refractory to initial treatment. Randomized controlled studies to guide treatment choices, especially beyond first-line drugs, are not available. This report summarizes the evidence that guides the management of refractory convulsive SE (RCSE) in children, defines gaps in our clinical knowledge and describes the development and works of the 'pediatric Status Epilepticus Research Group' (pSERG).

METHODS:

A literature review was performed to evaluate current gaps in the pediatric SE and RCSE literature. In person and online meetings helped to develop and expand the pSERG network.

RESULTS:

The care of pediatric …

Acute Cranial Neuropathies Heralding Neurosyphilis In Human Immunodeficiency Virus-Infected Patient., Saeed Alqahtani

Neurology Faculty Publications

No abstract provided.

Thiamine Pyrophosphokinase Deficiency Causes A Leigh Disease Like Phenotype In A Sibling Pair: Identification Through Whole Exome Sequencing And Management Strategies, Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vezina, Uta Lichter-Konecki, Kristina Cusmano-Ozog, Patroula Smpokou, Kimberly A. Chapman, Dina Zand

Neurology Faculty Publications

We present a sibling pair with Leigh-like disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated a homozygous thiamine pyrophosphokinase (TPK) mutation. Initiation of high dose thiamine, niacin, biotin, α-lipoic acid and ketogenic diet in this child demonstrated improvement in neurologic function and re-attainment of previously lost milestones. The diagnosis of TPK deficiency was difficult due to inconsistent biochemical and diagnostic parameters, rapidity of clinical demise and would not have been made in a timely manner without the use of whole exome sequencing. Molecular diagnosis allowed for attempt at dietary modification with cofactor supplementation …

Cerebral Pressure Passivity In Newborns With Encephalopathy Undergoing Therapeutic Hypothermia, Rathinaswamy B. Govindan, An Nguyen Massaro, Nickie N. Andescavage, Taeun Chang, Adre J. Du Plessis

Neurology Faculty Publications

We extended our recent modification of the power spectral estimation approach to quantify spectral coherence. We tested both the standard and the modified approaches on simulated data, which showed that the modified approach was highly specific and sensitive to the coupling introduced in the simulation while the standard approach lacked these features. We also applied the modified and standard approaches to quantify the pressure passivity in 4 infants receiving therapeutic hypothermia. This was done by measuring the coupling between continuous cerebral hemoglobin differences and mean arterial blood pressure. Our results showed that the modified approach identified a lower pressure passivity …