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Rett Syndrome: An inherited neurological developmental disorder that is associated with X-Linked inheritance and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; Ataxia; Seizures; autistic behavior; intermittent Hyperventilation; and Hyperammonemia appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

Pooled ShRNA Screen for Reactivation of MeCP2 on the Inactive X Chromosome

1Clinical Research Division, Fred Hutchinson Cancer Research Center, 2Present address: Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, 3Epigenetics Program, Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, 4Departments of Medicine and Biochemistry, University of Washington

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JoVE 56398


 JoVE In-Press

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)

1Department of Neuroscience and Cell Biology, Rutgers Robert Wood Johnson Medical School, 2Center for Advanced Biotechnology and Medicine, Department of Neuroscience and Cell Biology, Rutgers Robert Wood Johnson Medical School, 3The Child Health Institute of NJ, Department of Obstetrics, Gynecology, and Reproductive Services, Rutgers Robert Wood Johnson Medical School, 4The Child Health Institute of NJ, Department of Neuroscience and Cell Biology, Rutgers Robert Wood Johnson Medical School, 5Department of Genetics, Rutgers University

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JoVE 56628


 JoVE In-Press

Three-dimensional Quantification of Dendritic Spines from Pyramidal Neurons Derived from Human Induced Pluripotent Stem Cells

1Human Genetics and Cognitive Functions, Institut Pasteur, 2CNRS URA 2182 'Genes, synapses and cognition', Institut Pasteur, 3Human Genetics and Cognitive Functions, Université Paris Diderot, Sorbonne Paris Cité, 4Plateforme d' Imagerie Dynamique, Imagopole, CiTech, Institut Pasteur, 5Neuroplasticity and Therapeutics, CECS, I-STEM, AFM, Evry

JoVE 53197


 Developmental Biology

In Vivo Tracking of Edema Development and Microvascular Pathology in a Model of Experimental Cerebral Malaria Using Magnetic Resonance Imaging

1Department of Neuroradiology, Heidelberg University Hospital, 2Division of Experimental Radiology, Department of Neuroradiology, Heidelberg University Hospital, 3NeuroImaging Centre Research, Department of Neuroscience, Ruhr-University Bochum, 4Centre for Infectious Diseases, Parasitology Unit, Heidelberg University Hospital, 5German Centre for Infection Research (DZIF), 6Department of Neuroradiology, University of Würzburg, 7Center for Childhood and Adolescent Medicine, General Pediatrics, Heidelberg University Hospital

JoVE 55334


 Medicine

Detection of Modified Forms of Cytosine Using Sensitive Immunohistochemistry

1Laboratoire de Neurophysiologie (CP601), ULB Neuroscience Institute (UNI), Université Libre de Bruxelles, 2Medical Molecular Sciences, Centre for Biomolecular Sciences, University of Nottingham, 3School of Life Sciences, University of Nottingham, 4Division of Cancer and Stem Cells, Centre for Biomolecular Sciences, School of Medicine, University of Nottingham

JoVE 54416


 Biology

Isolating Nasal Olfactory Stem Cells from Rodents or Humans

1NICN, Aix Marseille University, 2LNPM, Aix Marseille University, 3ENT Department, Aix Marseille University, 4Gene expression Laboratory, The Salk Institute for Biological Studies, 5Laboratory of Speech and Language, Aix Marseille University, 6Centre d'Investigations Cliniques en Biothérapie, Aix Marseille University

JoVE 2762


 Neuroscience

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Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome

1Institute of Statistical Science, Academia Sinica, 2Max Planck Institute for Human Cognitive and Brain Sciences, 3Department of Psychology, Fo Guang University, 4Department of Electrical Engineering, Fu Jen Catholic University, 5State Research Institute of Physiology and Basic Medicine, 6Novosibirsk State University, 7Imaging Research Center, Taipei Medical University

JoVE 53962


 Behavior

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Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation

1Anesthesia Center for Critical Care Research of the Department of Anesthesia, Critical Care, and Pain Medicine, Massachusetts General Hospital, 2Cardiovascular Research Center and Cardiology Division of the Department of Medicine, Massachusetts General Hospital, 3Cardiovascular Division, Brigham and Women's Hospital, 4Harvard Medical School, 5Department of Anesthesiology, Uniklinik RWTH Aachen, RWTH Aachen University, 6Center for Immunology and Inflammatory Diseases and the Division of Rheumatology, Allergy, and Immunology of the Department of Medicine, Massachusetts General Hospital

JoVE 54017


 Medicine

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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

1Davis Heart and Lung Research Institute, The Ohio State University, 2Laboratory of Clinical Investigation, National Institute on Aging, 3Division of Endocrinology, Diabetes and Metabolism, The Ohio State University, 4Department of Human Sciences, Human Nutrition, The Ohio State University, 5Division of Endocrinology and Diabetes, Department of Pediatrics, University of Pennsylvania

JoVE 54977


 Medicine

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Perturbations of Circulating miRNAs in Irritable Bowel Syndrome Detected Using a Multiplexed High-throughput Gene Expression Platform

1Digestive Disorders Unit, National Institute of Nursing Research, National Institutes of Health, DHHS, 2National Institutes of Health Research Scholar, Howard Hughes Medical Institute, 3Internal Medicine, Medical School, University of Michigan

JoVE 54693


 Genetics

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

1University of Florence, 2INSERM INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire INMED, 5Royal Children's Hospital, 6Murdoch Children's Research Institute, 7University of Melbourne, 8Plateforme postgenomique INMED, 9University of Pavia, 10Wellcome Trust Centre for Human Genetics, 11Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Columbia University

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JoVE 53570


 JoVE In-Press

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In Vitro Recording of Mesenteric Afferent Nerve Activity in Mouse Jejunal and Colonic Segments

1Laboratory of Experimental Medicine and Pediatrics, Division of Gastroenterology, University of Antwerp, 2Visceral Pain Group, Discipline of Medicine, University of Adelaide, 3Department of Biomedical Sciences, University of Sheffield, 4Department of Pharmacy, Pharmacology and Postgraduate Medicine, University of Hertfordshire, 5Department of Gastroenterology and Hepatology, Antwerp University Hospital

JoVE 54576


 Neuroscience

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Lateral Canthotomy and Inferior Cantholysis

JoVE 10266

Source: James W Bonz, MD, Emergency Medicine, Yale School of Medicine, New Haven, Connecticut, USA

Lateral canthotomy is a potentially eyesight-saving procedure when performed emergently for an orbital compartment syndrome. An orbital compartment syndrome results from a buildup of pressure behind the eye; as pressure mounts, both the optic nerve and its vascular supply are compressed, rapidly leading to nerve damage and blindness if the pressure is not quickly relieved. The medial and lateral canthal tendons hold the eyelids firmly in place forming an anatomical compartment with limited space for the globe. In an orbital compartment syndrome, pressure rapidly increases as the globe is forced against the eyelids. Lateral canthotomy is the procedure by which the lateral canthal tendon is severed, thereby releasing the globe from its fixed position. Often, severing of the lateral canthal tendon alone is not enough to release the globe and the inferior portion (inferior crus) of the lateral canthal tendon also needs to be severed (inferior cantholysis). This increases precious space behind the eye by allowing the globe to become more proptotic, resulting in decompression. Most frequently, orbital compartment syndrome is the result of acute facial trauma, with the subsequent development of a retrobulbar


 Emergency Medicine and Critical Care

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Fiber Connections of the Supplementary Motor Area Revisited: Methodology of Fiber Dissection, DTI, and Three Dimensional Documentation

1Department of Neurosurgery, University of Minnesota, 2Department of Neurosurgery, Barrow Neurological Institute, St. Josephs Hospital and Medical Center, 3Department of Radiology, University of Alabama at Birmingham, 4Department of Radiology, University of Minnesota, 5Department of Neurosurgery, Tepecik Training and Research Hospital, 6Department of Neurosurgery, Cerrahpasa Medical School, University of Istanbul

JoVE 55681


 Neuroscience

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Wrist and Hand Examination

JoVE 10242

Source: Robert E. Sallis, MD. Kaiser Permanente, Fontana, California, USA

The wrist is a complex joint made up of 8 carpal bones and their numerous articulations and ligaments. Overlying the wrist are the tendons and muscles of the hand and fingers. The hand is made up of 5 metacarpal bones, and the tendons that run to the hand overlie these bones. Finally, the fingers consist of 14 phalanges with their articulations held together by collateral ligaments and volar plates. Common mechanisms of both acute and chronic wrist injury include impact, weight bearing (which can occur in gymnastics), twisting, and throwing. Osteoarthritis of the hand commonly affects distal interphalangeal (DIP) and proximal interphalangeal (PIP) joints, while rheumatoid arthritis (RA) is seen in the metacarpophalangeal (MCP) and PIP joints. It is important to compare the injured wrist or hand to the uninvolved side. Key aspects of the wrist and hand exam include inspection, palpation for tenderness or deformity, testing the range of motion (ROM) and strength, neurovascular assessment, ligaments and tendon testing, and the special tests.


 Physical Examinations III

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A Novel Method: Super-selective Adrenal Venous Sampling

1Department of Radiology, Nerima Hikarigaoka Hospital, 2Department of Uro-Oncology, Saitama Medical University International Medical Center, 3Endocrinology & Diabetes Center, Yokohama Rosai Hospital, 4Division of Endocrinology and Metabolism, Kanazawa University Graduate School of Medicine, 5Department of Medical Education, School of Medicine, California University of Science and Medicine, 6Department of Pathology, Saitama Medical University International Medical Center, 7Department of Radiology, Yokohama Rosai Hospital

JoVE 55716


 Medicine

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