Background:Meningioangiomatosis is a poorly studied, rare, benign, and epileptogenic brain lesion. Objective: To demonstrate that surgical resection and a short time interval to surgery improves epileptic seizure control, we performed a systematic review and meta-analysis of meningioangiomatosis cases. Methods: Using PRISMA-IPD guidelines, the authors performed a systematic review and meta-analysis of histopathologically proven meningioangiomatosis cases.Literature search in the French and English languages (PubMed, Embase, the Cochrane Library and the Science Citation Index) including all studies...
This data shows the references cited in the case report for the diagnosis of a 12-month-old girl who was referred to the pediatric neuromuscular clinic for evaluation of hypotonia and weakness and ultimately found to have 2 variants of uncertain significance in the NFU1 gene (NM _001002755.2 c.398T>C; p.Leu133Pro and NM _001002755.2 c.299C>G; p.Ala100Gly). Biochemical testing including CSF metabolomics confirmed her diagnosis of NFU1-related multiple mitochondrial dysfunctions syndrome (type 1).
Supplementary material from: A 59-year-old woman with multiple myeloma and lower extremity weakness and numbnessFábio A. Nascimento
Supplementary Table 1. Upper motor neuron (UMN) vs. lower motor neuron (LMN) syndromes.
Risk factors for cardiovascular disease (CVD) in adults with type 1 diabetes: findings from prospective real-life T1D exchange registryNicole Foster, Viral N Shah, Ryan Bailey, Mengdi Wu, Rodica Pop-Busui, Michelle Katz, Jill Crandall, Fida Bacha, Kristen Nadeau, Ingrid Libman, Paul Hiers, Kara Mizokami-Stout, Linda A DiMeglio, Jennifer Sherr, Richard Pratley, Shivani Agarwal, Janet Snell-Bergeon, Eda Cengiz, Sarit Polsky & Sanjeev N Mehta
Context Cardiovascular disease (CVD) is a major cause of mortality in adults with type 1 diabetes. Objective We prospectively evaluated CVD risk factors in a large, contemporary cohort of adults with type 1 diabetes living in the United States. Design Observational study of CVD and CVD risk factors over a median of 5.3 years. Setting The T1D Exchange clinic network. Patients Adults (age ≥18 years) with type 1 diabetes and without known CVD diagnosed before...
Chromosomal-level genome assembly of the scimitar‐horned oryx: insights into diversity and demography of a species extinct in the wildEmily Humble, Pavel Dobrynin, Helen Senn, Justin Chuven, Alan F. Scott, David W. Mohr, Olga Dudchenko, Arina D. Omer, Zane Colaric, Erez Lieberman Aiden, Shaikha Salem Al Dhaheri, David Wildt, Shireen Oliaji, Gaik Tamazian, Budhan Pukazhenthi, Rob Ogden & Klaus‐Peter Koepfli
Captive populations provide a valuable insurance against extinctions in the wild. However, they are also vulnerable to the negative impacts of inbreeding, selection and drift. Genetic information is therefore considered a critical aspect of conservation management. Recent developments in sequencing technologies have the potential to improve the outcomes of management programmes; however, the transfer of these approaches to applied conservation has been slow. The scimitar‐horned oryx (Oryx dammah) is a North African antelope that has...
Faces are one of the most important stimuli that we encounter, but humans vary dramatically in their behavior when viewing a face: some individuals preferentially fixate the eyes, others fixate the mouth, and still others show an intermediate pattern. The determinants of these large individual differences are unknown. However, individuals with Autism Spectrum Disorder (ASD) spend less time fixating the eyes of a viewed face than controls, suggesting the hypothesis that autistic traits in healthy...
Supplementary data for: Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgressionDan Vanderpool, Bin Quang Minh, Robert Lanfear, Daniel Hughes, Shwetha Murali, R. Alan Harris, Muthuswamy Raveendran, Donna M. Muzny, Richard A. Gibbs, Kim C. Worley, Jeffrey Rogers, Matthew W. Hahn, Mark S. Hibbins & Robert J. Williamson
Our understanding of the evolutionary history of primates is undergoing continual revision due to ongoing genome sequencing efforts. Bolstered by growing fossil evidence, these data have led to increased acceptance of once controversial hypotheses regarding phylogenetic relationships, hybridization and introgression, and the biogeographical history of primate groups. Among these findings is a pattern of recent introgression between species within all major primate groups examined to date, though little is known about introgression deeper in time....
A visual cortical prosthesis(VCP) has long been proposed as astrategy for restoringuseful vision to the blind, under the assumptionthat visual percepts of small spots of lightproduced withelectrical stimulation of visual cortex (phosphenes) will combine into coherent percepts of visual forms, like pixels on a video screen.We tested analternative strategy in which shapes were traced on the surface of visual cortex by stimulating electrodes in dynamic sequence. In both sighted and blind participants, dynamic stimulation enabled...
Introduction Intensive care has played a pivotal role during the COVID-19 pandemic as many patients developed severe pulmonary complications. The availability of information in pediatric intensive care (PICUs) remains limited. The purpose of this study is to characterize COVID-19 positive admissions (CPAs) in the United States and to determine factors that may impact those admissions. Materials and Methods This is a retrospective cohort study using data from the COVID-19 dashboard virtual pediatric system) containing information...
Cohesin plays an essential role in chromatin loop extrusion, but its impact on a compartmentalized nuclear architecture is debatable. Using live-cell and super-resolved 3D microscopy, we demonstrate that cohesin-depleted cells pass through an endomitosis and rebuild a single multilobulated nucleus (MLN) with chromosome territories (CTs) pervaded by interchromatin channels. CTs contain chromatin domain clusters with a zonal organization of repressed chromatin domains in the interior and transcriptionally competent domains located at the periphery. Splicing speckles...
Research Education: Neurology Resident EEG Education: A Survey of US Neurology Residency Program DirectorsFábio Augusto Nascimento E Silva & Jay Gavvala
Objective: To better understand the EEG education provided to adult neurology residents by surveying program directors (PDs) of adult neurology residency programs in the US. Methods: An online survey focused on characteristics of neurology residency programs and their EEG teaching systems was distributed to the 161 adult neurology residency PDs listed in the ACGME website at the time of the study. Results: Forty-seven (29%) out of the 161 PDs completed the survey – most of...
Nanostring mRNA expression profiling of P7 Arx(GCG)10+7 neonatal cortex using nCounter® mouse Neuropathology Plus PanelMeagan Siehr, Cory Massey & Jeffrey Noebels
X-linked infantile spasms syndrome (ISSX) is a clinically devastating developmental epileptic encephalopathy with life-long impact. Arx(GCG)10+7, a mouse model of the most common triplet-repeat expansion mutation of ARX, exhibits neonatal spasms, electrographic phenotypes and abnormal migration of GABAergic interneuron subtypes. Neonatal presymptomatic treatment with 17β-estradiol (E2) in Arx(GCG)10+7 reduces spasms and modifies progression of epilepsy. Cortical pathology during this period, a crucial point for clinical intervention in ISSX, has largely been unexplored, and the pathogenic...
Baylor College of Medicine12
University of Pennsylvania1
University of Colorado System1
University of Michigan-Ann Arbor1
Rose–Hulman Institute of Technology1
Environment Agency Abu Dhabi1
Australian National University1
University of Edinburgh1
University of Michigan Medical School1