Pompe disease is a rare multisystem genetic disorder that is characterized by absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA). This enzyme is required to breakdown (metabolize) the complex carbohydrate glycogen and convert it into the simple sugar glucose.

Sclerotherapy is a procedure used to eliminate varicose veins and spider veins. Sclerotherapy involves an injection of a solution (generally a salt solution) directly into the vein. The solution irritates the lining of the blood vessel, causing it to collapse and stick together and the blood to clot.Sep 17, 2016

Diverticula are small, bulging pouches that can form in the lining of your digestive system. They are found most often in the lower part of the large intestine (colon). Diverticula are common, especially after age 40, and seldom cause problems. Sometimes, however, one or more of the pouches become inflamed or infected. That condition is known as diverticulitis (die-vur-tik-yoo-LIE-tis). Diverticulitis can cause severe abdominal pain, fever, nausea and a marked change in your bowel habits. Mild diverticulitis can be treated with rest, changes in your diet and antibiotics. Severe or recurring diverticulitis may require surgery.

Liver transplantation is surgery to remove a diseased or injured liver and replace it with a healthy whole liver or a segment of a liver from another person, called a donor. People with either acute or chronic liver failure may need a liver transplant to survive.

Cerebral palsy is a disorder of movement, muscle tone or posture that is caused by damage that occurs to the immature, developing brain, most often before birth. Signs and symptoms appear during infancy or preschool years. In general, cerebral palsy causes impaired movement associated with abnormal reflexes, floppiness or rigidity of the limbs and trunk, abnormal posture, involuntary movements, unsteady walking, or some combination of these. People with cerebral palsy may have problems swallowing and commonly have eye muscle imbalance, in which the eyes don't focus on the same object. People with cerebral palsy also may suffer reduced range of motion at various joints of their bodies due to muscle stiffness. Cerebral palsy's effect on functional abilities varies greatly. Some affected people can walk while others can't. Some people show normal or near-normal intellectual capacity, but others may have intellectual disabilities. Epilepsy, blindness or deafness also may be present.

Absence of a woman's monthly menstrual period is called amenorrhea. Secondary amenorrhea is when a woman who has been having normal menstrual cycles stops getting her periods for 6 months or longer. Causes Secondary amenorrhea can occur due to natural changes in the body. For example, the most common cause of secondary amenorrhea is pregnancy. Breastfeeding and menopause are also common, but natural, causes. Women who take birth control pills or who receive hormone shots such as Depo-Provera may not have any monthly bleeding. When they stop taking these hormones, their periods may not return for more than 6 months. You are more likely to have absent periods if you: Are obese Exercise too much and for long periods of time Have very low body fat (less than 15 to 17%) Have severe anxiety or emotional distress Lose a lot of weight suddenly (for example, from strict or extreme diets or after gastric bypass surgery) Other causes include: Brain (pituitary) tumors Drugs for cancer treatment Drugs to treat schizophrenia or psychosis Overactive thyroid gland Polycystic ovarian syndrome Reduced function of the ovaries

This video: Claudication is pain caused by too little blood flow, usually during exercise. Sometimes called intermittent claudication, this condition generally affects the blood vessels in the legs, but claudication can affect the arms, too. At first, you'll probably notice the pain only when you're exercising, but as claudication worsens, the pain may affect you even when you're at rest. Although it's sometimes considered a disease, claudication is technically a symptom of a disease. Most often, claudication is a symptom of peripheral artery disease, a potentially serious but treatable circulation problem in which the vessels that supply blood flow to your legs or arms are narrowed. Fortunately, with treatment, you may be able to maintain an active lifestyle without pain.

A chalazion is a lump of the lid that is caused by obstruction of the drainage duct of an oil gland within the upper or lower eyelid. This lump may increase in size over days to weeks and may occasionally become red, warm, or painful.

A man's age matters. As men get older, the chances of conceiving and having a healthy child decline. Male fertility starts to decline after 40 when sperm quality decreases. This means it takes longer for their partners to conceive and when they do, there's an increased risk of miscarriage.

The physical signs of pregnancy are easy to recognize -- nausea, fatigue, that swollen belly and (often) a healthy glow. But what if you had these telltale pregnancy symptoms -- and weren't actually pregnant? As crazy as it sounds, it does happen. False pregnancy, or pseudocyesis, is a condition in which a woman believes that she's pregnant, yet conception hasn't taken place and no baby is forming inside. Common, and often lasting, pregnancy symptoms help to reinforce this idea, which can lead a woman to be absolutely certain she's expecting, for months or even years!

Cardiac arrest usually results from an electrical disturbance in the heart. It's not the same as a heart attack. The main symptom is loss of consciousness and unresponsiveness. This medical emergency needs immediate CPR or use of a defibrillator. Hospital care includes drugs, an implantable device, or other procedures.

The ACL is one of the four main ligaments within the knee that connect the femur to the tibia. The knee is essentially a hinged joint that is held together by the medial collateral (MCL), lateral collateral (LCL), anterior cruciate (ACL) and posterior cruciate (PCL) ligaments.

Your egg usually lives for just 12 to 24 hours, but sperm will live inside you for anything from a few hours to seven days, with one to three days the optimum time. ... But because a small number of sperm are long-living, having sex up to six days before ovulation can also result in pregnancy.

A sneeze, or sternutation, is a semi-autonomous, convulsive expulsion of air from the lungs through the nose and mouth, usually caused by foreign particles irritating the nasal mucosa

Breast lumps facts Breast lumps can be caused by infections, injuries, non-cancerous growths, and cancer. Breast cancer usually causes no pain in the breast. The symptoms of breast cancer include painless breast lumps, nipple discharge, and inflammation of the skin of the breast. The chances that a particular breast lump could be cancerous depends on many factors, including past medical history, physical examination, as well as genetic and other risk factors. The only way to be certain that a lump is not cancerous is to have a tissue sampling (biopsy). There are several ways to do the biopsy. The treatment of a breast lump depends on its cause.

A hiatus hernia or hiatal hernia is the protrusion (or herniation) of the upper part of the stomach into the thorax through the esophageal hiatus because of a tear or weakness in the diaphragm. Hiatus hernias often result in heartburn but may also cause chest pain or pain with eating. The most common cause is obesity.

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Bariatric surgical procedures cause weight loss by restricting the amount of food the stomach can hold, causing malabsorption of nutrients, or by a combination of both gastric restriction and malabsorption. Bariatric procedures also often cause hormonal changes. Most weight loss surgeries today are performed using minimally invasive techniques (laparoscopic surgery). The most common bariatric surgery procedures are gastric bypass, sleeve gastrectomy, adjustable gastric band, and biliopancreatic diversion with duodenal switch. Each surgery has its own advantages and disadvantages.

» A kidney stone, also known as a renal calculus (from the Latin rēnēs, “kidneys,” and calculus, “pebble”), is a solid concretion or crystal aggregation formed in the kidneys from dietary minerals in the urine. » Urolithiasis (UL) is one of the most common diseases, with approximately 7.6% incidence in Western India. Although most patients have only one stone episode, 25% of patients experience recurrent stone formation. UL therefore has a significant impact on quality of life and socioeconomic factors.