PEPR Overview The Validation of Pediatric Patient Reported Outcomes in Chronic Diseases (PEPR) Consortium (U19) will capitalize on recent advances in the science of Patient Reported Outcomes (PROs) to assess the health of children with a variety of chronic diseases and conditions in clinical research and care settings. Examples of
Robert Colbert, M.D., Ph.D., leads a team of scientists in the Pediatric Translational Research Branch studying the etiology and pathogenesis of early onset arthritis, including axial disease in juvenile spondyloarthritis.
Dr. Sikora devotes his time in studying the pathogenesis of pediatric inflammatory disease, including juvenile arthritis and relapsing polychondritis.
What is juvenile idiopathic arthritis (JIA)? Juvenile idiopathic arthritis (JIA) is the most common type of chronic, or long-lasting, arthritis that affects children. It happens when the immune system attacks healthy joint tissues. JIA broadly refers to several different chronic (long-lasting) disorders involving inflammation of joints (arthritis), which can cause: Joint pain. Swelling. Warmth. Stiffness. Loss of motion. JIA may last a few months or years, or it may be a lifelong disease.
What is Sjögren’s syndrome? Sjögren’s syndrome is a chronic (long-lasting) disorder that happens when the immune system attacks the glands that make moisture in the eyes, mouth, and other parts of the body. The main symptoms are dry eyes and mouth, but the disorder may affect other parts of the body. Many people with Sjogren’s syndrome say they feel tired often (fatigue). They also may have joint and muscle pain. In addition, the disease can damage the lungs, kidneys, and nervous system.
What is Raynaud’s phenomenon? Raynaud’s phenomenon is a condition that causes the blood vessels in the hands and feet to narrow, decreasing blood flow. When this happens, parts of the body—usually the fingers and toes—become cold and numb, and change color (usually, to white or blue). An attack usually happens from exposure to cold or stress.
What is Marfan syndrome? Marfan syndrome is a genetic disorder that affects the body’s ability to make healthy connective tissue, which supports the bones, muscles, organs, and tissues in your body. The condition can affect different areas of the body, including: Bones, ligaments, tendons, and cartilage. Organs, such as the heart and lungs. Skin.
What is pemphigus? Pemphigus is a rare disease that causes blistering on many parts of the body, including the skin and the inside of the mouth, nose, throat, eyes, and genitals. In pemphigus, the immune system mistakenly attacks cells in the top layer of the skin.
What is pachyonychia congenita? Pachyonychia congenita (PC) is a very rare genetic disorder that affects the skin and nails. Most people have thickened nails and calluses on the bottom of the feet. Painful calluses on the soles can make walking difficult. Because of the pain, some people rely on a cane, crutches, or a wheelchair to help with walking.
What is psoriatic arthritis? Psoriatic arthritis is a condition that causes swelling and pain in joints and the places where tendons and ligaments attach to bones. Most people who develop psoriatic arthritis already have psoriasis (a skin disease), but a small number have joint pain before the skin rash.
A researcher from Stanford University asked IRP investigator Michael Ombrello, M.D., to help her team follow a new lead in the mystery of why some patients with a rare inflammatory condition called Still’s disease were coming down with a life-threatening lung ailment.
What are polymyalgia rheumatica and giant cell arteritis? Polymyalgia rheumatica and giant cell arteritis are closely linked inflammatory disorders. Some people have one of the disorders while others develop both of them. Polymyalgia rheumatica causes muscle pain and stiffness in the shoulders, upper arms, hip area, and sometimes the neck. Giant cell arteritis causes inflammation of arteries, especially those on each side of the head, scalp, and the aorta (the large artery that carries blood from the heart) and its main branches. The main symptoms of this disorder are: Headaches. Scalp tenderness. Jaw pain. Problems with your eyes, which may