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Tuesday, October 5, 2010
Wilson's disease
Wilson's disease is an inherited disorder that causes too much copper to accumulate in your liver, brain and other vital organs. Another term for Wilson's disease is hepatolenticular degeneration.
Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and any excess is excreted through bile.
But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. Left untreated, Wilson's disease is fatal. When diagnosed early, Wilson's disease is treatable.
* Causes
Wilson's disease occurs when a genetic mutation leads to an accumulation of copper in your body. Wilson's disease is inherited as an autosomal recessive trait.
The mutation that causes Wilson's disease occurs in a gene called ATP7B. When a mutation occurs on this gene, it leads to problems with a protein that's responsible for moving excess copper out of your liver.
In people with Wilson's disease, the extra copper doesn't leave your body. Instead, copper builds up in the liver, where it can cause serious and sometimes irreversible damage. In time, excess copper leaves the liver and begins accumulating in and harming other organs, especially the brain, eyes and kidneys.
* Signs and symptoms of Wilson's disease
■ Dense Kayser-Fleischer ring in asymptomatic Wilson's disease
■ Clumsiness
■ Depression
■ Difficulty speaking
■ Difficulty swallowing
■ Difficulty walking
■ Drooling
■ Easy bruising
■ Fatigue
■ Involuntary shaking
■ Joint pain
■ Loss of appetite
■ Nausea
■ Skin rash
■ Swelling of arms and legs
■ Yellowing of the skin and eyes (jaundice)
* Complications
■ Scarring of the liver
■ Liver failure
■ Liver cancer
■ Persistent neurological problems
■ Kidney problems
* Treatments and drugs
Recommend medications to reduce the amount of copper in your body. Once that is achieved, treatment focuses on preventing copper from building up again. When liver damage is severe, a liver transplant may be necessary.
chelating agents prompt your organs to release copper into your bloodstream. The copper is then filtered by your kidneys and released into your urine.
Penicillamine (Cuprimine, Depen). ,Trientine (Syprine). etc can be used as chelating agents.
For people with severe liver damage, a liver transplant may be necessary
Monday, October 4, 2010
Tetralogy of Fallot
Tetralogy of Fallot is a congenital heart defect. A congenital heart defect is a problem with the heart's structure that’s present at birth. This type of heart defect changes the normal flow of blood through the heart.
Tetralogy of Fallot is a rare, complex heart defect that occurs in about 5 out of every 10,000 babies. It affects boys and girls equally.
Tetralogy of Fallot involves four heart defects:
A large ventricular septal defect (VSD)
Pulmonary stenosis
Right ventricular hypertrophy
An overriding aorta
* Ventricular Septal Defect
A VSD is a hole in the part of the septum that separates the ventricles, the lower chambers of the heart. The hole allows oxygen-rich blood from the left ventricle to mix with oxygen-poor blood from the right ventricle.
* Pulmonary Stenosis
This defect is a narrowing of the pulmonary valve and the passage through which blood flows from the right ventricle to the pulmonary artery.In pulmonary stenosis, the heart has to work harder than normal to pump blood, and not enough blood reaches the lungs.
* Right Ventricular Hypertrophy
This defect occurs if the right ventricle thickens because the heart has to pump harder than it should to move blood through the narrowed pulmonary valve
* Overriding Aorta
In tetralogy of Fallot, the aorta is between the left and right ventricles, directly over the VSD. As a result, oxygen-poor blood from the right ventricle flows directly into the aorta instead of into the pulmonary artery to the lungs.
Together, these four defects mean that not enough blood is able to reach the lungs to get oxygen, and oxygen-poor blood flows out to the body.
Sunday, June 6, 2010
Swine influenza
Swine influenza (also called mexican flu, pig influenza, swine flu, hog flu and pig flu) is an infection by any one of several types of swine influenza virus. Swine influenza virus (SIV) or S-OIV (swine-origin influenza virus) is any strain of the influenza family of viruses that is endemic in pigs.[2] As of 2009, the known SIV strains include influenza C and the subtypes of influenza A known as H1N1, H1N2, H3N1, H3N2, and H2N3.
Swine influenza virus is common throughout pig populations worldwide. Transmission of the virus from pigs to humans is not common and does not always lead to human influenza, often resulting only in the production of antibodies in the blood. If transmission does cause human influenza, it is called zoonotic swine flu. People with regular exposure to pigs are at increased risk of swine flu infection. The meat of an infected animal poses no risk of infection when properly cooked.
During the mid-20th century, identification of influenza subtypes became possible, allowing accurate diagnosis of transmission to humans. Since then, only 50 such transmissions have been confirmed. These strains of swine flu rarely pass from human to human. Symptoms of zoonotic swine flu in humans are similar to those of influenza and of influenza-like illness in general, namely chills, fever, sore throat, muscle pains, severe headache, coughing, weakness and general discomfort.
Sunday, April 25, 2010
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