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Alagille syndrome (AS) is an autosomal dominant disorder (OMIM 118450) associated with abnormalities of the liver, heart, skeleton, eye, and kidneys and a characteristic facial appearance. In 1973, Watson and Miller reported 9 cases of neonatal liver disease with familial pulmonary valvular stenosis.
Dermatomyositis (dur-muh-toe-my-uh-SY-tis) is an uncommon inflammatory disease marked by muscle weakness and a distinctive skin rash. Dermatomyositis affects adults and children alike. In adults, dermatomyositis usually occurs from the late 40s to early 60s. In children, the disease most often appears between 5 and 15 years of age. Dermatomyositis affects more females than males. There's no cure for dermatomyositis, but periods of remission — when symptoms improve spontaneously — may occur. Treatment can clear the skin rash and help you regain muscle strength and function. Symptoms ShareTweet June 17, 2014 References Products and Services Newsletter: Mayo Clinic Health Letter See also Dysphagia Electromyography Fatigue MRI Muscle pain Peptic ulcer Prednisone risks, benefits Show more Advertisement Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. Advertising & Sponsorship PolicyOpportunitiesAd Choices Mayo Clinic Store Check out these best-sellers and special offers on books and newsletters from Mayo Clinic. NEW! – The Mayo Clinic Diet, Second Edition Treatment Strategies for Arthritis Mayo Clinic on Better Hearing and Balance Keeping your bones healthy and strong The Mayo Clinic Diet Online
The goal of a decompression surgery is usually to relieve pain caused by nerve root pinching. There are two common causes of lumbar nerve root pressure: from a lumbar herniated disc or lumbar spinal stenosis. This type of pain is usually referred to as a radiculopathy, or sciatica. A decompression surgery involves removing a small portion of the bone over the nerve root and/or disc material from under the nerve root to relieve pinching of the nerve and provide more room for the nerve to heal. The most common types of decompression surgery are microdiscectomy and laminectomy.
Shaken baby syndrome symptoms and signs include: Extreme irritability Difficulty staying awake Breathing problems Poor eating Tremors Vomiting Pale or bluish skin Seizures Paralysis Coma Other injuries that may not be initially noticeable include bleeding in the brain and eye, damage to the spinal cord and neck and fractures of the ribs, skull and bones. Evidence of prior child abuse also is common.
Mastectomy is surgery to remove all breast tissue from a breast as a way to treat or prevent breast cancer. For those with early-stage breast cancer, mastectomy may be one treatment option. Breast-conserving surgery (lumpectomy), in which only the tumor is removed from the breast, may be another option.
Porcelain gallbladder is a condition characterized by calcium salt deposits in the wall of a chronically inflamed gallbladder. The calcifications can be thin or faintly visible, or may be amorphous, patchy, and thick. The gallbladder is generally large, but its size can vary considerably. Most porcelain gallbladders are associated with gallstones. A plain radiograph generally detects these, but computed tomography (CT) has a higher specificity; therefore, a CT scan is performed to confirm the diagnosis. Due to their high risk of gallbladder carcinoma, all patients with porcelain gallbladder should have an elective cholecystectomy.
To avoid pupil constriction while accommodating, ask to the patient to fix on a distant object throughout your examination. Look for equal pupil sizes, and check again with the lights off. Anisocoria is not a feature of an afferent defect. They dilate again after the light is removed.
Thoracentesis is a procedure to remove fluid or air from around the lungs. A needle is put through the chest wall into the pleural space. The pleural space is the thin gap between the pleura. The pleura are a double layer of membranes that surrounds the lungs.
Ebola virus disease (EVD; also Ebola hemorrhagic fever, or EHF), or simply Ebola, is a viral hemorrhagic fever of humans and other primates caused by ebolaviruses. Signs and symptoms typically start between two days and three weeks after contracting the virus with a fever, sore throat, muscular pain, and headaches.
Compartment syndrome can develop in the foot following crush injury or closed fracture. Following some critical threshold of bleeding and/or swelling into the fixed space compartments, arterial pulse pressure is insufficient to overcome the osmotic tissue pressure gradient, leading to cell death. The complicating factor is related to the magnitude of the force of the crush injury. The amount of swelling or bleeding has to be sufficient to impair arterial inflow, while not being of sufficient magnitude to produce an open injury, which decompresses the pressure within the affected compartments. When the injury is open, we then attribute the late disability primarily to the crushing injury to the involved muscles.
A Bone scan or bone scintigraphy is a nuclear scanning test to find certain abnormalities in bone which are triggering the bone's attempts to heal. It is primarily used to help diagnose a number of conditions relating to bones, including: cancer of the bone or cancers that have spread (metastasized) to the bone, locating some sources of bone inflammation (e.g. bone pain such as lower back pain due to a fracture), the diagnosis of fractures that may not be visible in traditional X-ray images, and the detection of damage to bones due to certain infections and other problems.
Nuclear medicine bone scans are one of a number of methods of bone imaging, all of which are used to visually detect bone abnormalities. Such imaging studies include magnetic resonance imaging (MRI), X-ray computed tomography (CT) and in the case of 'bone scans' nuclear medicine. However, a nuclear bone scan is a functional test, which means it measures an aspect of bone metabolism, which most other imaging techniques cannot. The nuclear bone scan competes with the FDG-PET scan in seeing abnormal metabolism in bones, but it is considerably less expensive.
Nuclear bone scans are not to be confused with the completely different test often termed a "bone density scan," DEXA or DXA, which is a low exposure X-ray test measuring bone density to look for osteoporosis and other diseases where bones lose mass, without any bone re-building activity. The nuclear medicine scan technique is sensitive to areas of unusual bone re-building activity because the radiopharmaceutical is taken up by osteoblast cells which build bone. The technique therefore is sensitive to fractures and bone reaction to infections and bone tumors, including tumor metastases to bones, because all these pathologies trigger bone osteoblast activity. The bone scan is not sensitive to osteoporosis or multiple myeloma in bones, and therefore other techniques must be used to assess bone abnormalities from these diseases.
A hemolytic transfusion reaction is a serious complication that can occur after a transfusion of blood. The red blood cells that were given in the transfusion are destroyed by the patient's immune system. There are other types of allergic transfusion reactions that do not cause hemolysis.
There are a number of different causes of vertigo. Vertigo can be defined based upon whether the cause is peripheral or central. Central causes of vertigo arise in the brain or spinal cord while peripheral vertigo is due to a problem within the inner ear. The inner ear can become inflamed because of illness, or small crystals or stones found normally within the inner ear can become displaced and cause irritation to the small hair cells within the semicircular canals, leading to vertigo. This is known as benign paroxysmal positional vertigo (BPPV).