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There are 3 genetic types of FHH based on chromosome location. FHH type 1 accounts for 65% of cases and is due to inactivating mutations in the CASR gene, localized to 3q21.1. This gene encodes the calcium-sensing receptor (CaSR). Loss of CaSR function results in a reduction in the sensitivity of parathyroid and renal cells to calcium levels so hypercalcemia is perceived as normal. The other 35% have either a mutation GNA11 (19p13.3) seen in FHH type 2 or AP2S1 (19q13.2-q13.3) seen in FHH type 3 (see these terms) or in genes not yet discovered. FHH is rarely caused by auto-antibodies against CaSR in those without a mutation.
Almost all the cells in your body were produced by mitosis. The only exception is sperm or eggs which are produced by a different type of cell division called meiosis. During fertilization the sperm and egg unite to form a single cell called the zygote which contains chromosomes from both the sperm and egg.
If you have been diagnosed with a bulging disc, you are not alone. Bulging discs, also known as a disc protrusion, are a very common occurrence. They usually remain asymptomatic; however, they can cause discomfort and disability in various parts of the body if the disc compresses an adjacent nerve root or the spinal cord. As we age, the outer fibrous portion of our discs can weaken. Pressure from the central core of the disc can then stretch to the outer rim, causing the disc to bulge. If left untreated, the disc can continue to bulge until it tears, which is classified as a herniated disc. Because a bulging disc does not always show symptoms, many people have bulging discs without realizing it. As long as the bulging area does not press against a nearby nerve, no symptoms occur. When the bulging disc does cause a pinched nerve, however, you may begin to experience symptoms. In the lower back, the damaged disc can cause pain to travel to the hips, buttocks, legs and feet. In the cervical spine, pain can radiate from the neck, down the arm and to the fingers.
Gastroparesis -- literally “paralyzed stomach” -- is a serious condition manifested by delayed emptying of stomach contents into the small intestine after a meal. There is no cure for gastroparesis, but treatment can speed gastric emptying and relieve gastrointestinal symptoms such as nausea and vomiting.
Experts do not know the exact cause of Zollinger-Ellison syndrome. About 25 to 30 percent of gastrinomas are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1). MEN1 causes hormone-releasing tumors in the endocrine glands and the duodenum.
A febrile seizure is a convulsion in a child that may be caused by a spike in body temperature, often from an infection. Your child's having a febrile seizure can be alarming, and the few minutes it lasts can seem like an eternity. Febrile seizures represent a unique response of a child's brain to fever, usually the first day of a fever. Fortunately, they're usually harmless and typically don't indicate an ongoing problem. You can help by keeping your child safe during a febrile seizure and by comforting him or her afterward.
This video demonstrates how bronchoscopy and vocal cord mass injections can be performed under endoscopic guidance in a patient without any sedation. Only topical and local anesthesia is used for patient comfort.
Thalassemia is a genetic blood disorder. People with Thalassemia disease are not able to make enough hemoglobin, which causes severe anemia. Hemoglobin is found in red blood cells and carries oxygen to all parts of the body. When there is not enough hemoglobin in the red blood cells, oxygen cannot get to all parts of the body. Organs then become starved for oxygen and are unable to function properly.
A bone marrow biopsy removes a small amount of bone and a small amount of fluid and cells from inside the bone (bone marrow). A bone marrow aspiration removes only the marrow. These tests are often done to find the reason for many blood disorders and may be used to find out if cancer or infection has spread to the bone marrow. Bone marrow aspiration removes a small amount of bone marrow fluid and cells through a needle put into a bone. The bone marrow fluid and cells are checked for problems with any of the blood cells made in the bone marrow. Cells can be checked for chromosome problems. Cultures can also be done to look for infection. A bone marrow biopsy removes bone with the marrow inside to look at under a microscope. The aspiration (taking fluid) is usually done first, and then the biopsy.
Primary biliary cholangitis (PBC), formerly known as primary biliary cirrhosis, is a chronic liver disease resulting from progressive destruction of the bile ducts in the liver – called the intrahepatic bile ducts. Bile produced in your liver travels via these ducts to your small intestine where it aids in the digestion of fat and fat-soluble vitamins (A, D, E and K). When the ducts are destroyed, bile builds up in the liver contributing to inflammation and scarring (fibrosis). Eventually this can lead to cirrhosis and its associated complications, as scar tissue replaces healthy liver tissue and liver function becomes increasingly impaired.
Behcet's (beh-CHETS) disease, also called Behcet's syndrome, is a rare disorder that causes blood vessel inflammation throughout your body. The disease can lead to numerous signs and symptoms that may seem unrelated at first. They may include mouth sores, eye inflammation, skin rashes and lesions, and genital sores. The effects of Behcet's disease vary from person to person and may clear up on their own. Treatment involves medications to reduce the signs and symptoms of Behcet's disease and to prevent serious complications, such as blindness.
A pneumothorax can be caused by a blunt or penetrating chest injury, certain medical procedures, or damage from underlying lung disease. Or it may occur for no obvious reason. Symptoms usually include sudden chest pain and shortness of breath. On some occasions, a collapsed lung can be a life-threatening event.
Laser-assisted in situ keratomileusis (LASIK) eye surgery can correct or improve your sight by using a laser to change the shape of the cornea. Find out more here: https://www.bupa.co.uk/health-....information/eyes-sig and https://www.bupa.co.uk/health-....information/eyes-sig/laser-eye-surgery
The content is intended for general information only and does not replace the need for personal advice from a qualified health professional.
Originally broadcast November 21, 2014.
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