Dr. Carmelo Carmona-Rivera studies the role of post-translational modifications such as citrullination, carbamylation, and others in the pathogenesis of rheumatoid arthritis, hidradenitis suppurativa, and other autoinflammatory/autoimmune conditions.
Dr. Kaplan’s research focuses on identifying the molecular mechanisms that promote the initiation and perpetuation of perturbed immune responses and the development of organ damage and premature vascular disease in systemic autoimmunity.
What are growth plate injuries? The growth plate is the area of tissue near the ends of long bones in children and teens that determines what length and shape the bone will be once it is done growing. Each long bone— the thigh bone, the bones in the forearm, and the bones in the hands and fingers—has at least two growth plates, one at each end. Once your child has finished growing, the growth plates close and are replaced by solid bone. The growth plates are weak areas of your child’s growing skeleton, making it easier to injure them. Injuries
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 osteopetrosis? Osteopetrosis is a rare disorder that causes bones to grow abnormally and become too dense. When this happens, bones can break easily. In addition, bones may be misshapen and large, causing other problems in the body, such as problems with: Seeing and hearing. Fighting infection. Controlling bleeding. Osteopetrosis is a genetic disease that a child inherits from their parents. The disorder may be mild to severe, and symptoms may show up early after birth or later in adulthood.
What is Paget’s disease? Paget’s disease of bone is a chronic (long-lasting) disorder that causes bones to grow larger and become weaker than normal. Usually only one or a few bones have the disease. Many people with Paget’s disease do not have symptoms. However, the bone changes can cause: Bone pain. Misshapen bones. Broken bones (fractures). Problems in the joints near the bones with the disease. With treatment, many people can: Manage their symptoms. Improve pain. Control the effects of the disease.
What is scoliosis? Scoliosis is a sideways curve of the spine. Children and teens with scoliosis have an abnormal S-shaped or C-shaped curve of the spine. The curve can happen on either side of the spine and in different places in the spine. With treatment, observation, and follow-up with the doctor, most children and teens with scoliosis have normal, active lives.
What is osteoporosis? Osteoporosis is a disease that causes bones to become weak and brittle. This increases your risk of broken bones (fractures). Osteoporosis is a “silent” disease because you may not have symptoms. You may not even know you have the disease until you break a bone. Breaks can occur in any bone but happen most often in: Hip bones. Vertebrae in the spine. Wrist. You can take steps to help prevent osteoporosis and broken bones by: Doing weight-bearing exercises, such as walking or dancing, and lifting weights. Not drinking too much alcohol. Quitting smoking, or not starting if
What is reactive arthritis? Reactive arthritis happens when an infection causes joint pain and swelling. A bacterial infection in the digestive or urinary tract or the genitals usually triggers the condition, but arthritis symptoms typically do not start until a few weeks after you have recovered from the infection. The most common features of reactive arthritis are inflammation of the joints (especially the knees and ankles), eyes, and urinary tract, but not everyone gets all three, or they might not happen at the same time.
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 osteogenesis imperfecta? Osteogenesis imperfecta (OI) is a disease that causes your bones to break (fracture) easily. OI is also called brittle bone disease. Your symptoms may be mild or severe, depending on the type of OI you have.
What are autoimmune diseases? Autoimmune diseases refer to problems with the immune system, which usually fights off viruses, bacteria, and infection. The problem causes your immune cells to attack your body by mistake. These diseases can affect almost any part of the body.
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NIH scientists developed and recently released a free, online data query tool called NeutGX. Researchers around the world can use NeutGX to explore the genetic basis of neutrophil-mediated inflammation in autoimmune diseases, cancer, infectious diseases and other conditions.
Adeline Chin, a postbaccalaureate research fellow, is searching for proteins present at abnormally high or low levels in the blood of kids with a rare autoimmune illness.
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
Discussing Bone, Muscle, Skin, & Autoimmune Diseases: Info for American Indians, Alaska Natives - audio
A conversation between Dr. David R. Wilson, director of the NIH Tribal Health Research Office, and Dr. Lindsey A. Criswell, director of NIAMS, about information and resources for American Indians and Alaska Natives related to bone, muscle, skin, and autoimmune diseases.
Sometimes, your immune system makes mistakes. If it sees your body’s healthy cells as a threat, it may attack them. This can cause an autoimmune disorder.