Adrenoleukodystrophy, or ALD, is a deadly genetic disease that affects 1 in 18 000 people. It most severely affects boys and men. This brain disorder destroys myelin, the protective sheath that surrounds the brain's neurons -- the nerve cells that allow us to think and to control our muscles.

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.

Pain in the upper thigh can be difficult to diagnose because this area of the body contains many muscles, tendons, and ligaments. This kind of pain may often be due to minor muscle injuries that are treatable at home. When the pain is intense or does not go away, however, it may signal a more serious problem. In this video, we examine some common causes of pain in the upper thigh, along with any symptoms that may occur alongside. We also take a look at the treatment options and how to prevent this type of pain.

surgical procedure used to remove excess skin and fat from the abdomen and to tighten the muscles of the abdominal wall. Most tummy tuck patients are dealing with the effects of pregnancies and weight loss and find themselves with loose skin in spite of exercise and weight control. Each year, thousands of Americans undergo a tummy tuck to tone, firm and define the abdominal area.

Tongue fassiculations

Syringomyelia is a cystic cavitation of the spinal cord associated with Chiari I malformation (70%) or basilar invagination (10%) or tumor. It may be a post-traumatic condition. There are 2 main forms: communicating with the central canal or subarachnoid spaces (Chiari I malformation); non communicating (trauma, tumors).

A pneumothorax (noo-moe-THOR-aks) is a collapsed lung. A pneumothorax occurs when air leaks into the space between your lung and chest wall. This air pushes on the outside of your lung and makes it collapse. In most cases, only a portion of the lung collapses.

CIN is a rare disorder and occurs when kidney problems are caused by the use of certain contrast dyes. In most cases contrast dyes used in tests, such as CT (computerized tomography) and angiograms, have no reported problems. About 2 percent of people receiving dyes can develop CIN. However, the risk for CIN can increase for people with diabetes, a history of heart and blood diseases, and chronic kidney disease (CKD). For example, the risk of CIN in people with advanced CKD (glomerular filtration rate (GFR) below 30 mL/min/1.73m2), increases to 30 to 40 percent. The risk of CIN in people with both CKD and diabetes is 20 to 50 percent.

Video to help understand hearing loss and hearing impairment by explaining how hearing works. Cochlear implants can help children and adults with hearing loss

Not all conditions that lead to heart failure can be reversed, but treatments can improve the signs and symptoms of heart failure and help you live longer. Lifestyle changes — such as exercising, reducing salt in your diet, managing stress and losing weight — can improve your quality of life.

This video may contain images of a medical doctor providing emergency care for a patient.

Debulking epithelial ovarian cancer. The other important goal of surgery is to remove as much of the tumor as possible − this is called debulking. Debulking is very important in any patient with ovarian cancer that has already spread widely throughout the abdomen at the time of surgery.

Animation of Scarless Varicose Vein Treatment No Knife Endovenous Laser

Think you're supposed to tilt your head to the sky when you have a nosebleed? Not so fast. Follow these steps instead:

Repairing a myelomeningocele in utero, rather than after birth, reduces the risk for fetal or neonatal death and the need for shunting by age 1 and substantially improves neurologic and motor outcomes. However, it is not without maternal and fetal risks. These are the findings, in a nutshell, of the long-awaited Management of Myelomeningocele Study (MOMS), which were published online February 9 in The New England Journal of Medicine.

Exo-Glove Poly (Seoul National University). This wearable robot helps disabled patients regain control of their hands.

Baby Mucus Removal - Is This Right Way???

Wet dreams occur when you ejaculate during your sleep. The medical term for a wet dream is “nocturnal emission.“ Most wet dreams are reported in teenage boys and young men, and sometimes they occur well into adulthood.

Aparthroereisis