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X-linked agammaglobulinemia (XLA), or Bruton agammaglobulinemia, is an inherited immunodeficiency disease caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). The disease was first elucidated by Bruton in 1952, for whom the gene is named. BTK is critical to the maturation of pre–B cells to differentiating mature B cells. The BTK gene defect has been mapped to the long arm of the X chromosome at band Xq21.3 to Xq22, spanning 37.5kb with 19 exons forming 659 amino acids to complete the BTK cytosolic tyrosine kinase. A database of BTK mutations (BTKbase: Mutation registry for X-linked agammaglobulinemia) lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. No single mutation accounts for more than 3% of mutations in patients. In addition to mutations, a number of variants or polymorphisms have been found.
You can decrease your risk of getting Lyme disease with some simple precautions: Cover up. ... Use insect repellents. ... Do your best to tick-proof your yard. ... Check yourself, your children and your pets for ticks. ... Don't assume you're immune. ... Remove a tick as soon as possible with tweezers.
Enzymes, or digestive juices, produced by the pancreas are secreted into the small intestine to further break down food after it has left the stomach. The gland also produces the hormone insulin and secretes it into the bloodstream in order to regulate the body's glucose or sugar level.
Dextrocardia situs inversus refers to the heart being a mirror image situated on the right side. For all visceral organs to be mirrored, the correct term is dextrocardia situs inversus totalis. Dextrocardia is believed to occur in approximately 1 in 12,000 people.
Gallstones are hardened deposits of digestive fluid that can form in your gallbladder. Your gallbladder is a small, pear-shaped organ on the right side of your abdomen, just beneath your liver. The gallbladder holds a digestive fluid called bile that's released into your small intestine. Gallstones range in size from as small as a grain of sand to as large as a golf ball. Some people develop just one gallstone, while others develop many gallstones at the same time. Gallstones are common in the United States. People who experience symptoms from their gallstones usually require gallbladder removal surgery. Gallstones that don't cause any signs and symptoms typically don't need treatment.
An ICD is a battery-powered device placed under the skin that keeps track of your heart rate. Thin wires connect the ICD to your heart. If an abnormal heart rhythm is detected the device will deliver an electric shock to restore a normal heartbeat if your heart is beating chaotically and much too fast.
Diuretics, sometimes called water pills, help rid your body of salt (sodium) and water. Most work by making your kidneys release more sodium into your urine. The sodium then takes water with it from your blood. That decreases the amount of fluid flowing through your blood vessels, which reduces pressure on your vessel walls.