A disease which uric acid (byproduct of purine metabolism) accumulates in the blood and may deposit crystals in soft tissues of joint. (Kidneys too)
Heredity plays a factor, “Rich Man’s Disease” (diet is key factor)
Attacks are usually sudden, with agonizing pain in a single joint. (Often the first metatarsal joint of the great toe). Heat, redness, swelling are typical.
Dx: Blood and synovial fluid exam for uric acid
Tx: Meds, low purine diet, no alcohol, rest
Px: Good with treatment and life style changes
Gout cont.-Tophus Tophus (Tophi plural): is a large, hard nodule consisting of uric acid crystals. They occur several years after first attack and develop in joint bursae, extensor surface of forearm and pinna of ear.
Is a hereditary group of connective tissue conditions.
patient is tall with long, narrow digits
abnormal length to extremities
Scoliosis is common
Subluxation of lens of eye
Cardiac and vascular anomalies (especially aorta). Often the first indication is a fatal ruptured aortic aneurysm
Mitral valve prolapse and thickening of the cardiac valves
Dx: Difficult because few have major features. Positive family history or skeletal signs warrant investigation. S&S + history and genetic testing
Tx: Treat the various conditions with close observation of the aorta. Surgical intervention with aorta can lengthen life. For very tall girls, inducing precocious puberty by age of 10 with estrogens and progesterone may reduce ultimate height.
Basic pathophysiology is same for all types. A metabolic defect, a deficit of dystrophin, a muscle cell membrane protein, leads to degeneration and necrosis of the cell. Skeletal muscle fibers are replaced by fat and fibrous connective tissue.
Dx; Family history, muscle biospy, EMG, & elevated creatine kinase (CK) in blood
No known treatment but PT, surgery and orthopedic devices reduce deformity and increase mobility
Px: Poor, with Duchenne’s (common type) the child is in WC by age 9-12. Death results from cardiac or respiratory complications within 10-15 years of onset
The spinal column is made up of vertebrae that are cushioned by small disks consisting of a tough outer layer (annulus) and a soft, jelly-like inner layer (nucleus). These disks act as shock absorbers, protecting the spine and nerves from the stress of everyday tasks as well as strenuous work such as heavy lifting. When a disk herniates, a tear or weakness in the annulus allows the jelly-like nucleus to push out into the spinal canal. If it puts pressure on a spinal nerve, the herniated disk can cause pain, numbness or weakness in the back, legs or arms, depending on where the disk is located
A hernia occurs when part of an internal organ or body part protrudes through an opening into another area where it ordinarily should not be located. There are many different types of hernias, but the most common is when a portion of the intestine protrudes through a weak area in the muscular wall of the abdomen. This causes an abnormal bulge under the skin of the abdomen, usually near the groin or the navel.