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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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 JoVE Behavior

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

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 JoVE Medicine

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

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 JoVE Medicine

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

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 JoVE Genetics

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

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 JoVE Neuroscience

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

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 JoVE In-Press

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

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

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JoVE 53570

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 JoVE In-Press

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

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JoVE 55681

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 Science Education: Essentials of Physical Examinations III

Hand and Wrist Exam

JoVE Science Education

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. The 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 and strength, neurovascular assessment, ligaments and tendon testing and the special tests.

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 JoVE Medicine

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

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 Science Education: Essentials of Physical Examinations III

Shoulder Exam II

JoVE Science Education

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 source 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.

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 JoVE Immunology and Infection

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

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 JoVE Behavior

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

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 JoVE Behavior

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

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 JoVE Medicine

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

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