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Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
 JoVE Immunology and Infection

An Optimized Protocol to Analyze Glycolysis and Mitochondrial Respiration in Lymphocytes

1Laboratory of Mitochondrial Biology and Metabolism, National Heart, Lung, and Blood Institute, National Institutes of Health, 2Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 3Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health


JoVE 54918

 JoVE In-Press

Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease

1Institute of Imaging Science, Vanderbilt University, 2Department of Radiology and Radiological Sciences, Vanderbilt University, 3Department of Biomedical Engineering, Vanderbilt University, 4Department of Molecular Physiology and Biophysics, Vanderbilt University, 5Department of Physical Medicine and Rehabilitation, Vanderbilt University, 6Department of Physics and Astronomy, Vanderbilt University

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JoVE 52352

 JoVE Medicine

Adaptation of Semiautomated Circulating Tumor Cell (CTC) Assays for Clinical and Preclinical Research Applications

1London Regional Cancer Program, London Health Sciences Centre, 2Department of Anatomy & Cell Biology, Schulich School of Medicine and Dentistry, Western University, 3Special Hematology/Flow Cytometry, London Health Sciences Centre, 4Lawson Health Research Institute, 5Department of Oncology, Western University


JoVE 51248

 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

 JoVE Medicine

Isolation and Immortalization of Patient-derived Cell Lines from Muscle Biopsy for Disease Modeling

1Department of Cell Biology, UT Southwestern Medical Center, 2National Institute of Neurological Disorders and Stroke, National Institute of Health, 3Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, 4Division of Genetics and Genomics, Boston Children's Hospital


JoVE 52307

 JoVE Biology

Purification of Transcripts and Metabolites from Drosophila Heads

1Department of Neurology, McKnight Brain Institute, University of Florida, 2Department of Entomology and Nematology, University of Florida, 3Genetics Institute, Department of Molecular Genetics and Microbiology, University of Florida, 4McKnight Brain Institute, Department of Neuroscience, Genetics Institute, Center for Translational Research on Neurodegenerative Diseases, and Center for Movement Disorders and Neurorestoration, University of Florida


JoVE 50245

 JoVE Immunology and Infection

Isolation of Myeloid Dendritic Cells and Epithelial Cells from Human Thymus

1Department of General Neurology, Hertie Institute for Clinical Brain Research, 2Institute of Pharmacology, University of Bern, 3Department of Immunology, University Medical Center Hamburg-Eppendorf, 4Department of Thoracic and Cardiovascular Surgery, University Clinic Tuebingen, 5Department of Neurology, University Hospital Erlangen


JoVE 50951

 JoVE Immunology and Infection

A Semi-automated Approach to Preparing Antibody Cocktails for Immunophenotypic Analysis of Human Peripheral Blood

1Human Immune Monitoring Laboratory, Earle A. Chiles Research Institute, Providence Cancer Center, Providence Portland Medical Center, 2Sony Biotechnology, 3Beckman Coulter, Inc. Life Sciences, 4Bristol-Myers Squibb


JoVE 53485

 JoVE Immunology and Infection

A Simple Flow Cytometric Method to Measure Glucose Uptake and Glucose Transporter Expression for Monocyte Subpopulations in Whole Blood

1Centre for Biomedical Research, Macfarlane Burnet Institute for Medical Research and Public Health, 2Department of Infectious Diseases, Monash University, 3Department of Microbiology and Immunology, University of Melbourne, 4Department of Microbiology, The University of the West Indies, 5Division of Experimental Medicine, Department of Medicine, University of California, San Francisco, 6Department of Medicine, Monash University


JoVE 54255

 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

 Science Education: Essentials of Physical Examinations II

Abdominal Exam I: Inspection and Auscultation

JoVE Science Education

Source: Alexander Goldfarb, MD, Assistant Professor of Medicine, Beth Israel Deaconess Medical Center, MA

Gastrointestinal disease accounts for millions of office visits and hospital admissions annually. Physical examination of the abdomen is a crucial tool in diagnosing diseases of the gastrointestinal tract; in addition, it can help identify pathological processes in cardiovascular, urinary, and other systems. As physical examination in general, the examination of the abdominal region is important for establishing physician-patient contact, for reaching the preliminary diagnosis and selecting subsequent laboratory and imaging tests, and determining the urgency of care. As with the other parts of a physical examination, visual inspection and auscultation of the abdomen are done in a systematic fashion so that no potential findings are missed. Special attention should be paid to potential problems already identified by the patient's history. Here we assume that the patient has already been identified, and has had history taken, symptoms discussed, and areas of potential concern identified. In this video we will not review the patient's history; instead, we will go directly to the physical examination. Before we get to the examination, let's briefly review s

 JoVE In-Press

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

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JoVE 54977

 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

 Science Education: Essentials of Environmental Microbiology

Aseptic Technique in Environmental Science

JoVE Science Education

Source: Laboratories of Dr. Ian Pepper and Dr. Charles Gerba - Arizona University
Demonstrating Author: Luisa Ikner

Aseptic technique is a fundamental skill widely practiced in the field of environmental microbiology that requires a balance of mindfulness and practice in the laboratory. Proper use of this technique reduces the likelihood of bacterial or fungal contamination of reagents, culture media, and environmental samples. Aseptic technique is also vital to ensure data integrity and maintain the purity of culture libraries that may be comprised of very rare and difficult to culture isolates. Sources of contamination in the laboratory environment include airborne microorganisms (including those adhering to dust and lint particles), microbes present on the laboratory bench workspace or on unsterilized glassware or equipment, and microbes transferred from the body and hair of the researcher. The use of aseptic technique is also a safety measure that lowers the potential for the transmission of microorganisms to researchers, which is particularly important when working with pathogens.

 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

 JoVE Medicine

Using Multi-fluorinated Bile Acids and In Vivo Magnetic Resonance Imaging to Measure Bile Acid Transport

1Department of Surgery, University of Maryland School of Medicine, 2Department of Medicine, University of Maryland School of Medicine, 3Department of Radiology, University of Maryland School of Medicine, 4Food and Drug Administration, 5Department of Pharmaceutical Sciences, University of Maryland School of Pharmacy, 6VA Maryland Health Care System


JoVE 54597

 JoVE Medicine

Bronchoalveolar Lavage (BAL) for Research; Obtaining Adequate Sample Yield

1Biomedical Research Centre in Microbial Diseases, National Institute for Health Research, 2Respiratory Infection Group, Royal Liverpool and Broadgreen University Hospital Trust, 3Respiratory Infection Group, Liverpool School of Tropical Medicine, 4Institute of Infection and Global Health, University of Liverpool, 5Comprehensive Local Research Network, Royal Liverpool and Broadgreen University Hospital Trust, 6Department of Respiratory Research, University Hospital Aintree


JoVE 4345

 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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