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Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe Intellectual disability. Cardiac and gastrointestinal malformations, a marked increase in the incidence of Leukemia, and the early onset of Alzheimer disease are also associated with this condition. Pathologic features include the development of Neurofibrillary tangles in neurons and the deposition of Amyloid beta-protein, similar to the pathology of Alzheimer disease. (Menkes, Textbook of Child Neurology, 5th ed, p213)
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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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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

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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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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

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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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Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting

1Murdoch Childrens Research Institute, The Royal Children’s Hospital, 2Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, 3Department of Anatomy and Developmental Biology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton

JoVE 52691


 Medicine

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Shoulder Exam II

JoVE 10185

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

The shoulder exam continues by checking the strength of the rotator cuff muscles and biceps tendons. The rotator cuff muscles (supraspinatus, infraspinatus, teres minor, and subscapularis) act as compressors, holding the humeral head in place against the glenoid. Injury and degeneration of the rotator cuff tendons are the most common sources of shoulder pain. The strength testing of the rotator muscle is performed by testing motions against resistance applied by the examiner. Pain with these resisted motions suggests tendonitis; weakness suggests a rotator cuff tear. The strength tested is followed by tests for impingement syndrome, shoulder instability, and labrum injury. It is important to test both of the shoulders and compare between the sides. The opposite shoulder should be used as the standard to evaluate the injured shoulder, provided it has not been injured as well.


 Physical Examinations III

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Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

1Greehey Children's Cancer Research Institute, UT Health Science Center at San Antonio, 2Department of Cellular and Structural Biology, UT Health Science Center at San Antonio, 3Department of Pathology, UT Health Science Center at San Antonio, 4Department of Microbiology, UT Health Science Center at San Antonio, 5Cancer Therapy and Research Center, UT Health Science Center at San Antonio

JoVE 50752


 Immunology and Infection

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Moderate Prenatal Alcohol Exposure and Quantification of Social Behavior in Adult Rats

1Department of Psychology, University of New Mexico, 2Department of Neurosciences, University of New Mexico, 3Department of Psychiatry and Behavioral Sciences, University of New Mexico, 4Canadian Centre for Behavioural Neuroscience, University of Lethbridge

JoVE 52407


 Behavior

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Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

1Department of Integrative Physiology, National Institute for Physiological Sciences, 2Department of Otolaryngology, Head and Neck Surgery, Nagoya City University Graduate School of Medical Sciences and Medical School, 3Department of Otorhinolaryngology, Kansai Rosai Hospital, 4Institute for Biomagnetism and Biosignalanalysis, University of Muenster, 5Institute for Epidemiology and Social Medicine, University of Muenster, 6Sokendai Graduate University for Advanced Studies

JoVE 53264


 Behavior

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Guide Wire Assisted Catheterization and Colored Dye Injection for Vascular Mapping of Monochorionic Twin Placentas

1Division of Pediatric and Fetal Surgery, Department of Surgery, University of California, San Francisco, 2Department of Pathology, University of Alberta, 3Department of Obstretics and Gynecology, University of California, San Francisco, 4Department of Radiology, University of California, San Francisco

JoVE 2837


 Medicine

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