Pediatrics Commons^™

Cardiac Magnetic Resonance Imaging To Determine Single Ventricle Function In A Pediatric Population Is Feasible In A Large Trial Setting: Experience From The Single Ventricle Reconstruction Trial Longitudinal Follow Up, Jon Detterich, Michael D Taylor, Timothy C Slesnick, Michael Dilorenzo, Anthony Hlavacek, Christopher Z Lam, Shagun Sachdeva, Sean M Lang, M Jay Campbell, Jennifer Gerardin, Kevin K Whitehead, Rahul H Rathod, Mark Cartoski, Shaji Menon, Felicia Trachtenberg, Russell Gongwer, Jane Newburger, Caren Goldberg, Adam L Dorfman, The Pediatric Heart Network Investigators

Faculty, Staff and Students Publications

The Single Ventricle Reconstruction (SVR) Trial was a randomized prospective trial designed to determine survival advantage of the modified Blalock-Taussig-Thomas shunt (BTTS) vs the right ventricle to pulmonary artery conduit (RVPAS) for patients with hypoplastic left heart syndrome. The primary aim of the long-term follow-up (SVRIII) was to determine the impact of shunt type on RV function. In this work, we describe the use of CMR in a large cohort follow up from the SVR Trial as a focused study of single ventricle function. The SVRIII protocol included short axis steady-state free precession imaging to assess single ventricle systolic function …

A Novel Pathogenic Mutation Of Mecp2 Impairs Chromatin Association Independent Of Protein Levels, Jian Zhou, Claudia Cattoglio, Yingyao Shao, Harini P Tirumala, Carlo Vetralla, Sameer S Bajikar, Yan Li, Hu Chen, Qi Wang, Zhenyu Wu, Bing Tang, Mahla Zahabiyon, Aleksandar Bajic, Xiangling Meng, Jack J Ferrie, Anel Lagrone, Ping Zhang, Jean J Kim, Jianrong Tang, Zhandong Liu, Xavier Darzacq, Nathaniel Heintz, Robert Tjian, Huda Y Zoghbi

Faculty, Staff and Students Publications

Loss-of-function mutations in MECP2 cause Rett syndrome (RTT), a severe neurological disorder that mainly affects girls. Mutations in MECP2 do occur in males occasionally and typically cause severe encephalopathy and premature lethality. Recently, we identified a missense mutation (c.353G>A, p.Gly118Glu [G118E]), which has never been seen before in MECP2, in a young boy who suffered from progressive motor dysfunction and developmental delay. To determine whether this variant caused the clinical symptoms and study its functional consequences, we established two disease models, including human neurons from patient-derived iPSCs and a knock-in mouse line. G118E mutation partially reduces MeCP2 abundance …

A Cross-Species Proteomic Map Reveals Neoteny Of Human Synapse Development, Li Wang, Kaifang Pang, Li Zhou, Arantxa Cebrián-Silla, Susana González-Granero, Shaohui Wang, Qiuli Bi, Matthew L White, Brandon Ho, Jiani Li, Tao Li, Yonatan Perez, Eric J Huang, Ethan A Winkler, Mercedes F Paredes, Rothem Kovner, Nenad Sestan, Alex A Pollen, Pengyuan Liu, Jingjing Li, Xianhua Piao, José Manuel García-Verdugo, Arturo Alvarez-Buylla, Zhandong Liu, Arnold R Kriegstein

Faculty, Staff and Students Publications

The molecular mechanisms and evolutionary changes accompanying synapse development are still poorly understood1,2. Here we generate a cross-species proteomic map of synapse development in the human, macaque and mouse neocortex. By tracking the changes of more than 1,000 postsynaptic density (PSD) proteins from midgestation to young adulthood, we find that PSD maturation in humans separates into three major phases that are dominated by distinct pathways. Cross-species comparisons reveal that human PSDs mature about two to three times slower than those of other species and contain higher levels of Rho guanine nucleotide exchange factors (RhoGEFs) in the …

Pediatric Covid-19 Encephalitis, Nelson D. Gonzalez, Dustin Paul, Ana Almeda, Samuel Serna, Linette Linsangan

Research Symposium

Background: Neurologic complications of COVID-19 in the pediatric population have been reported in a limited number of reports. There have been reports of COVID-19-associated encephalitis in pediatric cases along with neuroimaging findings revealing involvement of some parts of the nervous system. We present the first case of pediatric severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) - associated encephalitis targeting the parietal lobes.

Case: A 14-year-old morbidly obese Hispanic male with no past medical history presented to the hospital for new onset seizures. Family reported exposure to his COVID-19 positive mother, a one-week history of fever, and a three-month history of …

Novel Genetic And Phenotypic Expansion In Gosr2-Related Progressive Myoclonus Epilepsy, Lea Hentrich, Mered Parnes, Timothy Edward Lotze, Rohini Coorg, Tom J De Koning, Kha M Nguyen, Calvin K Yip, Heinz Jungbluth, Anne Koy, Hormos Salimi Dafsari

Faculty, Staff and Students Publications

Biallelic variants in the Golgi SNAP receptor complex member 2 gene (GOSR2) have been reported in progressive myoclonus epilepsy with neurodegeneration. Typical clinical features include ataxia and areflexia during early childhood, followed by seizures, scoliosis, dysarthria, and myoclonus. Here, we report two novel patients from unrelated families with a GOSR2-related disorder and novel genetic and clinical findings. The first patient, a male compound heterozygous for the GOSR2 splice site variant c.336+1G>A and the novel c.364G>A,p.Glu122Lys missense variant showed global developmental delay and seizures at the age of 2 years, followed by myoclonus at the age …

Bisphenol-A And Phthalate Metabolism In Children With Neurodevelopmental Disorders, T Peter Stein, Margaret D Schluter, Robert A Steer, Xue Ming

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: The etiology of autism spectrum (ASD) and Attention Deficit/Hyperactivity (ADHD) disorders are multifactorial. Epidemiological studies have shown associations with environmental pollutants, such as plasticizers. This study focused on two of these compounds, the Bisphenol-A (BPA) and Diethylhexyl Phthalate (DEHP). The major pathway for BPA and DEHP excretion is via glucuronidation. Glucuronidation makes insoluble substances more water-soluble allowing for their subsequent elimination in urine.

HYPOTHESIS: Detoxification of these two plasticizers is compromised in children with ASD and ADHD. Consequently, their tissues are more exposed to these two plasticizers.

METHODS: We measured the efficiency of glucuronidation in three groups of children, …

Distribution Of Hand Function By Age In Individuals With Rett Syndrome, Jeffrey L Neul, Tim A Benke, Eric D Marsh, Jane B Lane, David N Lieberman, Steven A Skinner, Daniel G Glaze, Bernhard Suter, Peter T Heydemann, Arthur A Beisang, Shannon M Standridge, Robin C C Ryther, Richard H Haas, Lloyd J Edwards, Amitha Ananth, Alan K Percy

Faculty, Staff and Students Publications

OBJECTIVE: To determine the longitudinal distribution of hand function skills in individuals with classic Rett Syndrome (RTT), an X-linked dominant neurodevelopmental disorder, and correlate with

METHOD: We conducted a longitudinal study of 946 girls and young women with typical RTT seen between 2006 and 2021 in the US Natural History Study (NHS) featuring a structured clinical evaluation to assess the level of hand function skills. The specific focus in this study was to assess longitudinal variation of hand skills from age 2 through age 18 years in relation to specific

RESULTS: Following the initial regression period, hand function continues to …

A Narrative Review On Treatment Strategies For Neonatal Hypoxic Ischemic Encephalopathy, Janelle M Korf, Louise D Mccullough, Viola Caretti

Faculty, Staff and Student Publications

Background and Objective

Hypoxic-ischemic encephalopathy (HIE) is a leading cause of death and disability worldwide. Therapeutic hypothermia (TH) represents a significant achievement in the translation of scientific research to clinical application, but it is currently the only neuroprotective treatment for HIE. This review aims to revisit the use of TH for HIE and its longitudinal impact on patient outcomes to readers new to the field of HIE. We discuss how emerging therapies address the broader pathophysiology of injury progression in the neonatal brain days to years after HIE.

Methods

We included full articles and book chapters published in English on …

Eosinophils Promote Effector Functions Of Lung Group 2 Innate Lymphoid Cells In Allergic Airway Inflammation In Mice, William E Lesuer, Melanie Kienzl, Sergei I Ochkur, Rudolf Schicho, Alfred D Doyle, Benjamin L Wright, Matthew A Rank, Alexander S Krupnick, Hirohito Kita, Elizabeth A Jacobsen

Faculty, Staff and Student Publications

BACKGROUND: Group 2 innate lymphoid cells (ILC2s) are critical mediators of type 2 respiratory inflammation, releasing IL-5 and IL-13 and promoting the pulmonary eosinophilia associated with allergen provocation. Although ILC2s have been shown to promote eosinophil activities, the role of eosinophils in group 2 innate lymphoid cell (ILC2) responses is less well defined.

OBJECTIVE: We sought to investigate the role of eosinophils in activation of ILC2s in models of allergic asthma and in vitro.

METHODS: Inducible eosinophil-deficient mice were exposed to allergic respiratory inflammation models of asthma, such as ovalbumin or house dust mite challenge, or to innate models of …

Exploring Gastrointestinal Health In Mecp2 Duplication Syndrome, Davut Pehlivan, Muharrem Ak, Daniel G Glaze, Bernhard Suter, Kathleen J Motil

Faculty, Staff and Students Publications

BACKGROUND: MECP2 duplication syndrome (MDS) is a rare neurogenetic syndrome caused by duplications of MECP2 at the Xq28 region. Although constipation and gastrointestinal reflux are reported in MDS, a comprehensive characterization of gastrointestinal health has not been fully explored.

METHODS: We conducted a parent survey to explore the characteristics of gastrointestinal health in individuals with MDS using a secure online registry and compared differences in gastrointestinal symptoms between individuals with MDS and those with Rett syndrome (RTT).

KEY RESULTS: One hundred six surveys were analyzed. Symptoms commonly associated with constipation occurred in 72% to 89% of MDS individuals. Eleven percent …

Effect Of Reduced Versus Usual Lipid Emulsion Dosing On Bilirubin Neurotoxicity And Neurodevelopmental Impairment In Extremely Preterm Infants: Study Protocol For A Randomized Controlled Trial, Lindsay F Holzapfel, Cody Arnold, Jon E Tyson, Steven M Shapiro, Eric W Reynolds, Claudia Pedroza, Emily K Stephens, Alan Kleinfeld, Andrew H Huber, Matthew A Rysavy, Maria Del Mar Romero Lopez, Amir M Khan

Faculty, Staff and Student Publications

BACKGROUND: Bilirubin neurotoxicity (BN) occurs in premature infants at lower total serum bilirubin levels than term infants and causes neurodevelopmental impairment. Usual dose lipid infusions in preterm infants may increase free fatty acids sufficiently to cause bilirubin displacement from albumin, increasing passage of unbound bilirubin (UB) into the brain leading to BN and neurodevelopmental impairment not reliably identifiable in infancy. These risks may be influenced by whether cycled or continuous phototherapy is used to control bilirubin levels.

OBJECTIVE: To assess differences in wave V latency measured by brainstem auditory evoked responses (BAER) at 34-36 weeks gestational age in infants born …

Epileptic Spasms In Cdkl5 Deficiency Disorder: Delayed Treatment And Poor Response To First-Line Therapies, Heather E Olson, Scott Demarest, Elia Pestana-Knight, Ahsan N Moosa, Xiaoming Zhang, José R Pérez-Pérez, Judy Weisenberg, Erin O'Connor Prange, Eric D Marsh, Rajsekar R Rajaraman, Bernhard Suter, Akshat Katyayan, Isabel Haviland, Carolyn Daniels, Bo Zhang, Caitlin Greene, Michelle Deleo, Lindsay Swanson, Jamie Love-Nichols, Timothy Benke, Chellamani Harini, Annapurna Poduri

Faculty, Staff and Students Publications

OBJECTIVE: We aimed to assess the treatment response of infantile-onset epileptic spasms (ES) in CDKL5 deficiency disorder (CDD) vs other etiologies.

METHODS: We evaluated patients with ES from the CDKL5 Centers of Excellence and the National Infantile Spasms Consortium (NISC), with onset from 2 months to 2 years, treated with adrenocorticotropic hormone (ACTH), oral corticosteroids, vigabatrin, and/or the ketogenic diet. We excluded children with tuberous sclerosis complex, trisomy 21, or unknown etiology with normal development because of known differential treatment responses. We compared the two cohorts for time to treatment and ES remission at 14 days and 3 months.

RESULTS: …

Arterial Spin Labeling Changes Parallel Asymmetric Perisylvian And Perirolandic Symptoms In 3 Pediatric Cases Of Anti-Nmdar Encephalitis, Alexander J Sandweiss, Varun Kannan, Nilesh K Desai, Stephen F Kralik, Eyal Muscal, Kristen S Fisher

Faculty, Staff and Students Publications

BACKGROUND AND OBJECTIVES: Anti-NMDA receptor autoimmune encephalitis (NMDAR AE) is an autoantibody-mediated disorder characterized by seizures, neuropsychiatric symptoms, movement disorder, and focal neurologic deficits. Conventionally defined broadly as an inflammatory brain disease, the heterotopic localization is rarely discussed in children. Imaging findings are often nonspecific, and there are no early biomarkers of disease other than the presence of anti-NMDAR antibodies.

METHODS: We conducted a retrospective analysis of our pediatric NMDAR AE cases (as determined by either positive serum or CSF antibodies or both) at Texas Children's Hospital between 2020-2021 and extracted medical record data of those patients who had arterial …

Efektivitas Manual Therapy Dan Ultrasound Terhadap Peningkatan Fungsi Gerak Bahu Pada Kasus Nyeri Bahu Et Causa Bursitis Subacromialis Dengan Parameter Spadi Di Rsud Muhammad Natsir, Fadhilah Az-Zahra, Ronal Lufitos, Faizah Abdullah Djawas

Jurnal Fisioterapi Terapan Indonesia

ABSTRACT: Adhesive Capsulitis is a disorder that occurs in the shoulder area in the form of inflammation of the joint capsule which causes a feeling of stiffness and pain. Glenohumeral joint mobilization with the Maitland mobilization technique is using passive mobilization with physiological oscillatory movements which can produce a stretching effect and release of adhesive on the ligament capsule in the shoulder so that the range of motion of the shoulder joint can be increased. Hold relax is an exercise therapy with the principle of reciprocal inhibition which aims to improve antagonistic pattern relaxation, and mobilization, and to reduce pain. …

Neurodynamic Technique Terhadap Penurunan Nyeri, Peningkatan Grip Strength, Dan Peningkatan Kemampuan Fungsional Pada Carpal Tunnel Syndrome, Safrin Arifin, Fathia Dheanisa

Jurnal Fisioterapi Terapan Indonesia

Carpal tunnel syndrome is a syndrome that occurs in 1-4% of the total population worldwide. This condition causes disruption of function and motion in the wrist that spreads to the fingers. Physiotherapy intervention is necessary to reduce the severity of symptoms in patients with CTS. Neurodynamic Techniques are nerve mobilization techniques that aim to restore homeostasis in the nerves so as to reduce pain and improve functional ability. Materials and methods. This research was conducted through searching several databases, found 31 articles which were then filtered and selected as many as 10 articles. However, of the 11 articles, further screening …

Aerobic Exercise Terhadap Peningkatan Endurance Pada Pasien Penyakit Jantung Koroner Dengan Pemeriksaan 6mwt : Studi Kasus, Dela Fariha Fuadi, Andrew Wijaya Saputra, Nabilla Nur Awaliah Dzatikhulwani

Jurnal Fisioterapi Terapan Indonesia

Background: Coronary heart disease (CHD) is a condition in which the heart's blood vessels (coronary arteries) are blocked by fat deposits. Based on data from Riskesdas (2018) it is revealed that cases of heart and blood vessel disease in Indonesia are increasing every year, increasing the mortality rate. This is due to the presence of risk factors that support the emergence of coronary heart disease. Objective: The aim of this paper is to evaluate the evaluation of aerobic exercise to increase endurance in patients with coronary heart disease by examining 6MWT. Method: This research is in the form of a …

Single Leg Depth Jump Kombinasi Core Plank Knee To Elbow Terhadap Power Otot Tungkai Atlet, Maya Triyanita, Siti Sardianti Dwi Tirta

Jurnal Fisioterapi Terapan Indonesia

Power limit training is defined as the movement to get a jump on athletes in doing the maximum jump smash. Badminton requires leg muscle explosive power because it is the muscle's ability to overcome loads and with a high speed of contraction. This study aims to determine the effect of the single leg depth jump exercise, the combination of the knee to elbow core plank, on increasing leg power in badminton athletes.

This study uses an experimental design method. This research was conducted on badminton athletes using a total sampling technique of 13 people, namely the Pliometric Simgle Leg Dept …

Sox7 Deficiency Causes Ventricular Septal Defects Through Its Effects On Endocardial-To-Mesenchymal Transition And The Expression Of Wnt4 And Bmp2, Andrés Hernández-García, Katherine E Pendleton, Sangbae Kim, Yumei Li, Bum J Kim, Hitisha P Zaveri, Valerie K Jordan, Aliska M Berry, M Cecilia Ljungberg, Rui Chen, Rainer B Lanz, Daryl A Scott

Faculty, Staff and Students Publications

SOX7 is a transcription factor-encoding gene located in a region on chromosome 8p23.1 that is recurrently deleted in individuals with ventricular septal defects (VSDs). We have previously shown that Sox7-/- embryos die of heart failure around E11.5. Here, we demonstrate that these embryos have hypocellular endocardial cushions with severely reduced numbers of mesenchymal cells. Ablation of Sox7 in the endocardium also resulted in hypocellular endocardial cushions, and we observed VSDs in rare E15.5 Sox7flox/-;Tie2-Cre and Sox7flox/flox;Tie2-Cre embryos that survived to E15.5. In atrioventricular explant studies, we showed that SOX7 deficiency leads to a severe reduction in endocardial-to-mesenchymal transition (EndMT). RNA-seq …

Effects Of Spaceflight On The Eeg Alpha Power And Functional Connectivity, Sandra Pusil, Jonathan Zegarra-Valdivia, Pablo Cuesta, Christopher Laohathai, Ana Maria Cebolla, Jens Haueisen, Patrique Fiedler, Michael Funke, Fernando Maestú, Guy Cheron

Faculty, Staff and Student Publications

Electroencephalography (EEG) can detect changes in cerebral activity during spaceflight. This study evaluates the effect of spaceflight on brain networks through analysis of the Default Mode Network (DMN)'s alpha frequency band power and functional connectivity (FC), and the persistence of these changes. Five astronauts' resting state EEGs under three conditions were analyzed (pre-flight, in-flight, and post-flight). DMN's alpha band power and FC were computed using eLORETA and phase-locking value. Eyes-opened (EO) and eyes-closed (EC) conditions were differentiated. We found a DMN alpha band power reduction during in-flight (EC: p < 0.001; EO: p < 0.05) and post-flight (EC: p < 0.001; EO: p < 0.01) when compared to pre-flight condition. FC strength decreased during in-flight (EC: p < 0.01; EO: p < 0.01) and post-flight (EC: ns; EO: p < 0.01) compared to pre-flight condition. The DMN alpha band power and FC strength reduction persisted until 20 days after landing. Spaceflight caused electrocerebral alterations that persisted after return to earth. Periodic assessment by EEG-derived DMN analysis has the potential to become a neurophysiologic marker of cerebral functional integrity during exploration missions to space.

A Rare Case Of Combined Immunodeficiency Syndrome With Otomastoiditis, Parotitis & Facial Nerve Palsy, Parth Garg, Amulya T M, Prakash B.G., Sandhya D

Digital Journal of Clinical Medicine

This article presents a case study of a 4-month-old female baby with combined immunodeficiency syndrome complicated by bilateral otomastoiditis, right-sided parotitis, and facial nerve palsy. The patient presented with symptoms of fever, cold, earache, and ear discharge. Clinical examination revealed redness and swelling in the post-auricular region, along with bloody discharge from the right ear. Further investigations, including blood tests, culture sensitivity, ultrasound scans, and imaging studies, confirmed the diagnosis. The patient was treated with appropriate antibiotics, antifungals, and supportive care. The article discusses the challenges in diagnosing and managing primary immunodeficiency diseases (PIDs), emphasising the importance of early recognition …

Imaging Of Pediatric Cardiac Tumors: A Cog Diagnostic Imaging Committee/Spr Oncology Committee White Paper, Cara E Morin, Lindsay M Griffin, Rebecca S Beroukhim, Pablo Caro-Domínguez, Sherwin Chan, Jason N Johnson, Juan C Infante, Christopher Z Lam, Ladonna J Malone, Elizabeth R Tang, Michael D Taylor, James C Wilkinson, Prakash M Masand

Faculty, Staff and Students Publications

Cardiac tumors in children are rare and the majority are benign. The most common cardiac tumor in children is rhabdomyoma, usually associated with tuberous sclerosis complex. Other benign cardiac masses include fibromas, myxomas, hemangiomas, and teratomas. Primary malignant cardiac tumors are exceedingly rare, with the most common pathology being soft tissue sarcomas. This paper provides consensus-based imaging recommendations for the evaluation of patients with cardiac tumors at diagnosis and follow-up, including during and after therapy.

Surgeons’ Knowledge Regarding Perioperative Pain Management In Patients With Opioid Use Disorder: A Survey Among 260 Members Of The American College Of Surgeons, Caroline E Crocker, Romana Sharmeen, Thu T Tran, Amir M Khan, Wen Li, Joseph L Alcorn

Faculty, Staff and Student Publications

Surfactant protein A (SP-A) has important roles in innate immunity and modulation of pulmonary and extrapulmonary inflammation. Given SP-A has been detected in rat and human brain, we sought to determine if SP-A has a role in modulating inflammation in the neonatal mouse brain. Neonatal wildtype (WT) and SP-A-deficient (SP-A

Participation Of Children And Youth With And Without Cerebral Palsy Across Settings: An Exploratory Study, Teresa Long Pierce, Alyssa Laforme Fiss

Research Day

Introduction: Cerebral Palsy is one of the most common pediatric health conditions resulting in childhood disability. Children with CP experience varying levels of functional impairments due to muscle weakness, alterations in muscle tone, balance deficits, and loss of selective motor control. These impairments and activity limitations are thought to contribute to lower levels of participation. Studies examining participation of children with CP have found that participation is positively correlated with increased physical activity and have concluded that environment is a significant predictor of participation. However, research examining participation across specific environments is lacking. Additionally, research investigating the influence of various …

Population Pharmacokinetic And Pharmacodynamic Modeling Of Fesoterodine In Pediatric Patients With Neurogenic Detrusor Overactivity, Yamato Sano, Satoshi Shoji, Mohamed Shahin, Kevin Sweeney, Amanda Darekar, Bimal K Malhotra

Faculty, Staff and Student Publications

BACKGROUND AND OBJECTIVE: Fesoterodine is a muscarinic receptor antagonist approved for the treatment of overactive bladder (OAB) in adults and neurogenic detrusor overactivity (NDO) in pediatric patients. This work aimed to characterize the population pharmacokinetics of 5-hydroxymethyl tolterodine (5-HMT, the active metabolite of fesoterodine) and its pharmacokinetic/pharmacodynamic relationship in pediatric patients with OAB or NDO following administration of fesoterodine.

METHODS: 5-HMT plasma concentrations from 142 participants of age ≥ 6 years were analyzed, and a nonlinear mixed-effects model was developed. Weight-based simulations of 5-HMT exposure and maximum cystometric capacity (MCC) were conducted using the final models.

RESULTS: A one-compartment model …

Use Of Integrative, Complementary, And Alternative Medicine In Children With Epilepsy: A Global Scoping Review, Zahra Zhu, Daniela Dluzynski, Nouran Hammad, Deepika Pugalenthi, Sarah A. Walser, Rea Mittal, Debopam Samanta, Melanie L. Brown, Ali A. Asadi-Pooya, Angelina Kakooza-Mwesige, Alberto Spalice, Martina Capponi, Alain Lekoubou, Ashutosh Kumar, Sita Paudel, Paul R. Carney, Gayatra Mainali, Sunil Naik

Department of Neurology Faculty Papers

(1) Background: Epilepsy is one of the most common chronic neurological disorders in childhood. Complementary and alternative medicine (CAM) use is highly prevalent in patients with epilepsy. Despite CAM’s widespread and increasing popularity, its prevalence, forms, perceived benefits, and potential risks in pediatric epilepsy are rarely explored. (2) Methods: We performed a scoping review of the available literature on the use of CAM in pediatric epilepsy. (3) Results: Overall, global cross-sectional studies showed a variable degree of CAM usage among children with epilepsy, ranging from 13 to 44% in prevalence. Popular types of CAMs reported were supplements, cannabis products, aromatherapy, …

Large-Scale Analysis Of Structural Brain Asymmetries In Schizophrenia Via The Enigma Consortium, Dick Schijven, Merel C Postema, Masaki Fukunaga, Junya Matsumoto, Kenichiro Miura, Sonja M C De Zwarte, Neeltje E M Van Haren, Wiepke Cahn, Hilleke E Hulshoff Pol, René S Kahn, Rosa Ayesa-Arriola, Víctor Ortiz-García De La Foz, Diana Tordesillas-Gutierrez, Javier Vázquez-Bourgon, Benedicto Crespo-Facorro, Dag Alnæs, Andreas Dahl, Lars T Westlye, Ingrid Agartz, Ole A Andreassen, Erik G Jönsson, Peter Kochunov, Jason M Bruggemann, Stanley V Catts, Patricia T Michie, Bryan J Mowry, Yann Quidé, Paul E Rasser, Ulrich Schall, Rodney J Scott, Vaughan J Carr, Melissa J Green, Frans A Henskens, Carmel M Loughland, Christos Pantelis, Cynthia Shannon Weickert, Thomas W Weickert, Lieuwe De Haan, Katharina Brosch, Julia-Katharina Pfarr, Kai G Ringwald, Frederike Stein, Andreas Jansen, Tilo T J Kircher, Igor Nenadić, Bernd Krämer, Oliver Gruber, Theodore D Satterthwaite, Juan Bustillo, Daniel H Mathalon, Adrian Preda, Vince D Calhoun, Judith M Ford, Steven G Potkin, Jingxu Chen, Yunlong Tan, Zhiren Wang, Hong Xiang, Fengmei Fan, Fabio Bernardoni, Stefan Ehrlich, Paola Fuentes-Claramonte, Maria Angeles Garcia-Leon, Amalia Guerrero-Pedraza, Raymond Salvador, Salvador Sarró, Edith Pomarol-Clotet, Valentina Ciullo, Fabrizio Piras, Daniela Vecchio, Nerisa Banaj, Gianfranco Spalletta, Stijn Michielse, Therese Van Amelsvoort, Erin W Dickie, Aristotle N Voineskos, Kang Sim, Simone Ciufolini, Paola Dazzan, Robin M Murray, Woo-Sung Kim, Young-Chul Chung, Christina Andreou, André Schmidt, Stefan Borgwardt, Andrew M Mcintosh, Heather C Whalley, Stephen M Lawrie, Stefan Du Plessis, Hilmar K Luckhoff, Freda Scheffler, Robin Emsley, Dominik Grotegerd, Rebekka Lencer, Udo Dannlowski, Jesse T Edmond, Kelly Rootes-Murdy, Julia M Stephen, Andrew R Mayer, Linda A Antonucci, Leonardo Fazio, Giulio Pergola, Alessandro Bertolino, Covadonga M Díaz-Caneja, Joost Janssen, Noemi G Lois, Celso Arango, Alexander S Tomyshev, Irina Lebedeva, Simon Cervenka, Carl M Sellgren, Foivos Georgiadis, Matthias Kirschner, Stefan Kaiser, Tomas Hajek, Antonin Skoch, Filip Spaniel, Minah Kim, Yoo Bin Kwak, Sanghoon Oh, Jun Soo Kwon, Anthony James, Geor Bakker, Christian Knöchel, Michael Stäblein, Viola Oertel, Anne Uhlmann, Fleur M Howells, Dan J Stein, Henk S Temmingh, Ana M Diaz-Zuluaga, Julian A Pineda-Zapata, Carlos López-Jaramillo, Stephanie Homan, Ellen Ji, Werner Surbeck, Philipp Homan, Simon E Fisher, Barbara Franke, David C Glahn, Ruben C Gur, Ryota Hashimoto, Neda Jahanshad, Eileen Luders, Sarah E Medland, Paul M Thompson, Jessica A Turner, Theo G M Van Erp, Clyde Francks

Faculty, Staff and Students Publications

Left-right asymmetry is an important organizing feature of the healthy brain that may be altered in schizophrenia, but most studies have used relatively small samples and heterogeneous approaches, resulting in equivocal findings. We carried out the largest case-control study of structural brain asymmetries in schizophrenia, with MRI data from 5,080 affected individuals and 6,015 controls across 46 datasets, using a single image analysis protocol. Asymmetry indexes were calculated for global and regional cortical thickness, surface area, and subcortical volume measures. Differences of asymmetry were calculated between affected individuals and controls per dataset, and effect sizes were meta-analyzed across datasets. Small …

Acute Necrotizing Encephalopathy In An Infant: A Case Report, Elisamia Ngowi, Zeenat Juneja, Jacqueline Gabone, Maria Bulimba, Mohamedraza Ebrahim, Yaser Abdallah

Paediatrics and Child Health, East Africa

Background: Acute necrotizing encephalopathy is a rare, severe neurological condition, characterized by symmetrical necrotic brain lesions affecting the thalamus, cerebral white matter, brain stem, and cerebellum. Diagnosis relies on characteristic clinical and radiological features.

Methodology: We describe a 10-month-old female infant presenting with multiple seizures following a brief febrile upper respiratory illness.

Findings: MRI of the brain showed bilateral symmetrical abnormal signal intensities involving both thalami and caudate nucleus, consistent with ANE. Management of ANE is symptom-related but high-dose steroids and IVIG have been used.

Conclusion: This case highlights the importance of recognizing ANE beyond its …

A Comprehensive And Integrative Approach To Mecp2 Disease Transcriptomics, Alexander J Trostle, Lucian Li, Seon-Young Kim, Jiasheng Wang, Rami Al-Ouran, Hari Krishna Yalamanchili, Zhandong Liu, Ying-Wooi Wan

Faculty, Staff and Students Publications

Mutations in MeCP2 result in a crippling neurological disease, but we lack a lucid picture of MeCP2's molecular role. Individual transcriptomic studies yield inconsistent differentially expressed genes. To overcome these issues, we demonstrate a methodology to analyze all modern public data. We obtained relevant raw public transcriptomic data from GEO and ENA, then homogeneously processed it (QC, alignment to reference, differential expression analysis). We present a web portal to interactively access the mouse data, and we discovered a commonly perturbed core set of genes that transcends the limitations of any individual study. We then found functionally distinct, consistently up- and …

A National, Electronic Health Record-Based Study Of Perinatal Hemorrhagic And Ischemic Stroke, Stuart Fraser, Samantha M Levy, Yashar Talebi, Sean I Savitz, Alicia Zha, Gen Zhu, Hulin Wu

Faculty, Staff and Student Publications

BACKGROUND: Perinatal stroke occurs in approximately 1 in 1100 live births. Large electronic health record (EHR) data can provide information on exposures associated with perinatal stroke in a larger number of patients than is achievable through traditional clinical studies. The objective of this study is to assess prevalence and odds ratios of known and theorized comorbidities with perinatal ischemic and hemorrhagic stroke.

METHODS: The data for patients aged 0-28 days with a diagnosis of either ischemic or hemorrhagic stroke were extracted from the Cerner Health Facts Electronic Medical Record (EMR) database. Incidence of birth demographics and perinatal complications were recorded. …

Properties Of A Combined Measure Of Reading And Writing: The Assessment Of Writing, Self-Monitoring And Reading (Awsm Reader), Anthony R Gioia, Yusra Ahmed, Steven P Woods, Paul T Cirino

Faculty, Staff and Student Publications

There is significant overlap between reading and writing, but no known standardized measure assesses these jointly. The goal of the present study is to evaluate the properties of a novel measure, the Assessment of Writing, Self-Monitoring, and Reading (AWSM Reader), that simultaneously evaluates both reading comprehension and writing. In doing so, we evaluate reliability (Cronbach’s alpha) and various aspects of construct-related validity, including separate criterion measures of reading and writing, and the AWSM Reader’s relations with other variables, including language and executive function (EF), both of which are implicated for both reading and writing. Participants were 377 3rd, 4th, and …