Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.

This type of gait is most often seen in peripheral nerve disease where the distal lower extremity is most affected. Because the foot dorsiflexors are weak, the patient has a high stepping gait in an attempt to avoid dragging the toe on the ground.

The "Get up and go" test is most commonly used to assess postural stability. In this test, the physician instructs the patient to stand up from a chair without assistance, walk a short distance, turn around, return, and sit down again. If the patient is unsteady or has difficulties during the test, further evaluation is necessary.

A detailed description of Adrenal insufficiency (Addison's disease) including basic physiology of the HPA axis, causes of primary and secondary insufficiency, clinical features of acute and chronic adrenal insufficiency. Lab testing for Addison's disease is also dealt with in detail. The management, both short term and long term are discussed in detail.

New Device can keep heart beating perfectly forever

Herpangina is a common childhood illness caused by a virus. It is characterized by small, blister-like ulcers on the roof of the mouth and in the back of the throat. The infection may also cause a sudden fever, sore throat, headache, and neck pain.

Of the many factors that affect your compatibility with a man, one of the biggest (or smallest) is in his pants. As with humour, interests or habits, the wrong fit can leave you cold. Or traumatised. In a study of 1,661 penises, Dr Debby Herbenick, author of Sex Made Easy, found an almost nine-inch difference in erection size: from 1.6 inches to 10.2. And since absolutely nothing outside the package tells you what to expect with the package, you have to test compatibility the hard way. Sometimes you hit your jackpot, sometimes it's just fine, and sometimes he's the guy on either end of that erection spectrum. These writers have been there, so here's what they learned - and how you can deal (without the gasp reflex).

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.

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Lupus hair loss and alopecia explained

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.

Eye cancers can be primary (starts within the eye) and metastatic cancer (spread to the eye from another organ). The two most common cancers that spread to the eye from another organ are breast cancer and lung cancer. Other less common sites of origin include the prostate, kidney, thyroid, skin, colon and blood or bone marrow. Melanomas (choroidal, ciliary body and uveal) -Early stages has no symptoms (the person does not know there is a tumor until an ophthalmology examination). As the tumor grows, symptoms can be blurred vision, decreased vision, double vision, eventual vision loss and if they continue to grow the tumor can break past the retina causing retinal detachment.

In Deep Vein Thrombosis, blood clot is able to reach the heart and from there it transport to the arteries of the lungs, where it may stuck in the...

Animation of Scarless Varicose Vein Treatment No Knife Endovenous Laser

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.

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.

The first operation is harvesting the heart from the donor. The donor is usually an unfortunate person who has suffered irreversible brain injury, called "brain death". Very often these are patients who have had major trauma to the head, for example, in an automobile accident. The victim's organs, other than the brain, are working well with the help of medications and other "life support" that may include a respirator or other devices. A team of physicians, nurses, and technicians goes to the hospital of the donor to remove donated organs once brain death of the donor has been determined. The removed organs are transported on ice to keep them alive until they can be implanted. For the heart, this is optimally less than six hours. So, the organs are often flown by airplane or helicopter to the recipient's hospital.

Flexor Tendon Repair

Carpal tunnel release is a surgery used to treat and potentially heal the painful condition known as carpal tunnel syndrome. Doctors used to think that carpal tunnel syndrome was caused by an overuse injury or a repetitive motion performed by the wrist or hand, often at work. They now know that it’s most likely a congenital predisposition (something that runs in families) – some people simply have smaller carpal tunnels than others. Carpal tunnel syndrome can also be caused by injury, such as a sprain or fracture, or repetitive use of a vibrating tool. It's also been linked to pregnancy, diabetes, thyroid disease, and rheumatoid arthritis.

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