Bernard-Soulier Disease Center - Cambridge, MACambridge Pediatrician Doctors for Bernard-Soulier DiseaseType of Physician: Pediatrician What is a Pediatrician? A certification by the Board of Pediatrics; practitioners are concerned with the physical, emotional, and social health of children from birth to young adulthood. Pediatric care encompasses a wide range of health services, from preventive health care to the diagnosis and treatment of acute and chronic diseases. The pediatrician understands the constantly changing status of his/her patients due to growth and development, and the consequent changing standards of "normal" for age. 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Bernard-Soulier Disease (Giant Platelet Syndrome)Read the Bernard-Soulier Disease (Giant Platelet Syndrome) article » What is Bernard-Soulier syndrome?The Bernard-Soulier Syndrome (B-SS) is a rare inherited bleeding disorder caused by abnormal platelets and subsequent abnormal clotting. It is one of the giant platelet syndromes. This syndrome was originally described in 1948 by two physicians who were treating a patient with a bleeding problem. They discovered that this patient had a prolonged bleeding time, fewer platelets, and larger platelets than the normal individual. Since then, the platelet abnormality has been described and determined to be due to the platelets lacking the ability to stick adequately to injured blood-vessel walls. This is a crucial aspect of the process of forming a blood clot, and as a result of this problem, there is abnormal bleeding. What are the symptoms and signs of Bernard-Soulier syndrome?Bernard-Soulier syndrome usually presents in the newborn period, infancy, or early childhood with bruises, nosebleeds (epistaxis), and/or gum (gingival) bleeding. Later problems can occur with anything that can induce bleeding such as menstruation, trauma, surgery, or stomach ulcers. What is the cause of Bernard-Soulier syndrome?Bernard-Soulier syndrome is a rare inherited disease and is transmitted in an autosomal recessive pattern. This means that both parents must carry a gene for the Bernard-Soulier syndrome and transmit that gene to the child for the child to have the disease. The prevalence is believed to be less than one in 1 million individuals. The molecular basis is now known and is due to a defect in the platelet glycoprotein complex 1b-IX-V. This is referred to as an adhesion complex and forms a receptor that enables platelets to stick together to form a clot. Normal platelets circulate in the blood and are the primary cells responsible for initiating clotting. Without this receptor, platelets cannot stick together and clotting does not occur no... Read the Bernard-Soulier Disease (Giant Platelet Syndrome) article » Recommended Reading Related to Bernard-Soulier Disease (Giant Platelet Syndrome)What is a bruise?You fall off your bike, bang your shin on the coffee table (that you swore you would move months ago) or run into a wall and wake up with a wallop of a bruise. What is a bruise, and what can you do about it? A bruise (medically referred to as a contusion) is caused when tiny blood vessels are damaged or broken as the result of a blow to the skin (be it bumping against something or hitting yourself with a hammer). The raised area of a bump or bruise results from blood leaking from these injured blood vessels into the tissues as well as from the body's response to the injury. A purplish, flat bruise that occurs when blood leaks out into the top layers of skin is referred to as an ecchymosis.
Why do bruises occur more frequently in some people than in others?The injury required to produce a bruise varies with age. While it may take quite a bit of force to cause a bruise in a young child, even minor ... Other Related Bernard-Soulier Disease ArticlesEmergency Contact for Cambridge
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