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Hemophilia A, also called factor VIII (FVIII) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor VIII, a clotting protein. Although it is passed down from parents to children, about 1/3 of cases are caused by a spontaneous mutation, a change in a gene. According to the US Centers for Disease Control and Prevention, hemophilia occurs in approximately 1 in 5,000 live births. There are about 20,000 people with hemophilia in the US. All races and ethnic groups are affected. Hemophilia A is four times as common as hemophilia B while more than half of patients with hemophilia A have the severe form of hemophilia.
Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs. Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.
Multiple endocrine neoplasia type 2 (MEN2) is a hereditary condition associated with three primary types of tumors: medullary thyroid cancer, parathyroid tumors, and pheochromocytoma. MEN2 is classified into three subtypes based on clinical features. MEN2A, which affects 60% to 90% of MEN2 families Medullary thyroid cancer: 98% to 100% with MEN2A are affected Pheochromocytoma, a typically benign (noncancerous) tumor of the adrenal glands: 50% with MEN2A affected Parathyroid adenoma (benign tumor) or hyperplasia, meaning increased size, of the parathyroid gland: 5% to 10% with MEN2A affected MEN2B, which affects 5% of MEN2 families Medullary thyroid cancer: 98% to 100% with MEN2B affected Pheochromocytoma: 50% with MEN2B affected Mucosal neuromas, which is a benign tumor of nerve tissue on the tongue, lips and throughout the gastrointestinal tract: 95% to 98% affected Digestive problems caused by disordered nerves in the gastrointestinal tract: 75% to 90% affected Muscle, joint, and spinal problems: 95% affected Typical facial features, including swollen lips and thick eyelids: 75% to 90% affected Familial medullary thyroid cancer (FMTC), which affects 5% to 35% of MEN2 families Medullary thyroid carcinoma only Sources: Gagel RF, Marx SJ. “Multiple endocrine neoplasia.” Williams Textbook of Endocrinology, Chapter 40, 11th ed., Philadelphia, 2008, and Eng C, Clayton D, et al. Grubbs EG, Gagel RF. My, How Things Have Changed in Multiple Endocrine Neoplasia Type 2A! J Clin Endocrinol Metab 100(7):2532-5, 7/2015. PMID: 26151398. What causes MEN2? MEN2 is a genetic condition. This means that the cancer risk and other features of MEN2 can be passed from generation to generation in a family. The gene associated with MEN2 is called RET. A mutation (alteration) in the RET gene gives a person an increased risk of developing medullary thyroid cancer and other tumors associated with MEN2.
Syringomyelia (sih-ring-go-my-E-lee-uh) is the development of a fluid-filled cyst (syrinx) within your spinal cord. Over time, the cyst may enlarge, damaging your spinal cord and causing pain, weakness and stiffness, among other symptoms. Syringomyelia has several possible causes, though the majority of cases are associated with a condition in which brain tissue protrudes into your spinal canal (Chiari malformation). Other causes of syringomyelia include spinal cord tumors, spinal cord injuries and damage caused by inflammation around your spinal cord. If syringomyelia isn't causing any problems, monitoring the condition may be all that's necessary. But if you're bothered by symptoms, you may need surgery.
The lungs and respiratory system allow oxygen in the air to be taken into the body, while also enabling the body to get rid of carbon dioxide in the air breathed out. Respiration is the term for the exchange of oxygen from the environment for carbon dioxide from the body's cells.
Wolff-Parkinson-White (WPW) syndrome, an extra electrical pathway between your heart's upper and lower chambers causes a rapid heartbeat. The extra pathway is present at birth and fairly rare. The episodes of fast heartbeats usually aren't life-threatening, but serious heart problems can occur. Treatment can stop or prevent episodes of fast heartbeats. A catheter-based procedure (ablation) can permanently correct the heart rhythm problems. Most people with an extra electrical pathway experience no fast heartbeat. This condition, called Wolff-Parkinson-White pattern, is discovered only by chance during a heart exam. Although WPW pattern is often harmless, doctors might recommend further evaluation before children with WPW pattern participate in high-intensity sports.
Simple or Total Mastectomy. The entire breast is removed, but no lymph nodes are taken in this procedure. Simple mastectomy is most frequently used for further cancer prevention or when the cancer has not spread to the lymph nodes.Oct 29, 2014
Endometriosis (en-doe-me-tree-O-sis) is an often painful disorder in which tissue that normally lines the inside of your uterus — the endometrium — grows outside your uterus. Endometriosis most commonly involves your ovaries, fallopian tubes and the tissue lining your pelvis. Rarely, endometrial tissue may spread beyond pelvic organs.
These are a few common types of benign bone tumors: Osteochondroma is the most common benign bone tumor. ... Giant cell tumor is a benign tumor, typically affecting the leg (malignant types of this tumor are uncommon). Osteoid osteoma is a bone tumor, often occurring in long bones, that occurs commonly in the early 20s.
Microscopic polyangiitis (MPA) is vasculitis of small vessels. It was initially considered as a microscopic form of polyarteritis nodosa (PAN). In 1990, the American College of Rheumatology developed classification criteria for several types of systemic vasculitis but did not distinguish between polyarteritis nodosa and microscopic polyarteritis nodosa. [1] In 1994, a group of experts held an international consensus conference in Chapel Hill, North Carolina, to attempt to redefine the classification of small vessel vasculitides. [2, 3]