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Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
Temporal arteritis is a condition in which the temporal arteries, which supply blood to the head and brain, become inflamed or damaged. It is also known as cranial arteritis or giant cell arteritis. Although this condition usually occurs in the temporal arteries, it can occur in almost any medium to large artery in the body. The journal Arthritis & Rheumatology states that approximately 228,000 people in the United States are affected by temporal arteritis. According to the American College of Rheumatology, people over the age of 50 are more likely than younger people to develop the condition. Women are also more likely than men to have temporal arteritis. It is most prevalent in people of northern European or Scandinavian descent. Although the exact cause of the condition is unknown, it may be linked to the body’s autoimmune response. Also, excessive doses of antibiotics and certain severe infections have been linked to temporal arteritis. There’s no known prevention. However, once diagnosed, temporal arteritis can be treated to minimize complications.
Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.
Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. GSD has two classes of cause: genetic and acquired.
What combines research opportunities, intellectual challenge, and international collaboration in the study of a disease which affects many organs of the body and all sectors of society? And demands that specialists from many different backgrounds work together to crack sometimes intractable problems? It is, of course, oncology. As a career choice, it's demanding; it takes passion coupled with a willingness to put in the hours and to learn how to discuss death honestly and sensitively. But for the right person, it can be immensely rewarding.
If you’ve suffered a sporting knee injury, how do you know when it’s serious? In this short video, Yorkshire Knee Clinic’s Dave Duffy reveals the two key tests that tell you whether your knee needs urgent, specialist attention.
𝗡𝗼𝘁𝗲𝘀 𝗳𝗼𝗿 𝘁𝗵𝗲 𝘀𝗾𝘂𝗲𝗮𝗺𝗶𝘀𝗵: This video features only features a model of the knee. There is no live footage from operations.
Discover more about sports knee injuries: https://yorkshirekneeclinic.com/sports-injuries/
Discover more about Dave Duffy: https://yorkshirekneeclinic.com/about/dave-duffy/
Herpes simplex encephalitis is characterized by acute-onset (<1 week) fever, headaches, seizures, altered mental status, and focal neurologic findings such as hemiparesis or cranial nerve deficits. This patient's weakness/fatigue for >1 week, heart murmur, history of drug abuse, and absence of focal neurologic deficits make endocarditis with mycotic aneurysm more likely than herpes encephalitis
Eosinophilic granulomatosis with polyangiitis (EGPA)—or, as it was traditionally termed, Churg-Strauss syndrome—is a rare systemic necrotizing vasculitis that affects small-to-medium-sized vessels and is associated with severe asthma and blood and tissue eosinophilia. [1] Like granulomatosis with polyangiitis (Wegener granulomatosis), and the microscopic form of periarteritis (ie, microscopic polyangiitis), EGPA is an antineutrophil cytoplasmic antibody (ANCA)–associated vasculitide. [2, 3, 4, 5] In 1951, Churg and Strauss first described the syndrome in 13 patients who had asthma, eosinophilia, granulomatous inflammation, necrotizing systemic vasculitis, and necrotizing glomerulonephritis. [3] In 1990, the American College of Rheumatology (ACR) proposed the following six criteria for the diagnosis of Churg-Strauss syndrome [6] : Asthma (wheezing, expiratory rhonchi) Eosinophilia of more than 10% in peripheral blood Paranasal sinusitis Pulmonary infiltrates (may be transient) Histological proof of vasculitis with extravascular eosinophils Mononeuritis multiplex or polyneuropathy
Reiter syndrome is a type of reactive arthritis that happens as a reaction to a bacterial infection in the body. The infection usually happens in the intestines, genitals, or urinary tract. Reiter syndrome includes redness, joint swelling and pain, often in knees, ankles, and feet, along with inflammation of the eyes and urinary tract. It is not contagious. But the bacteria that trigger it can be passed from one person to another. There is no cure for Reiter syndrome, but you can control the symptoms. For most people, symptoms go away in 2 to 6 months.
Therapeutic anticoagulation is recommended for all women with acute VTE; prophylactic anticoagulation is recommended for women at risk, such as those with a past history of thrombosis or thrombophilia or with a mechanical heart valve. The preferred anticoagulants during pregnancy are the heparin compounds.
Adrenoleukodystrophy, or ALD, is a deadly genetic disease that affects 1 in 18 000 people. It most severely affects boys and men. This brain disorder destroys myelin, the protective sheath that surrounds the brain's neurons -- the nerve cells that allow us to think and to control our muscles.
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.
CD4 T-cells (a type of white blood cell) are important to your body's defence against infections. This animation describes how your immune system is weakened by the HIV virus, which targets CD4 T-cells and leads to their gradual decline in number. Low to very low levels of CD4 cells put you at risk for 'opportunistic infections' that take advantage of the body's weakened immune system.