Archive for February, 2012

Abetalipoproteinemia or the Bassen Kornzweig Syndrome

One of the rare autosomal recessive disorders, is a syndrome that impediments the normal way fat and fat soluble vitamins are absorbed from food. This is a rare disease that is caused by a mutation in the microsomal triglyceride transfer protein which results in deficiencies in the apolipoproteins B -48 and B -100. These apolipoproteins that are used in the synthesis and the exportation of the VLDL and chylomicrons respectively. But this is not similar to familial dysbetalipoproteinemia. Abetalipoproteinemia thus is a condition that absorbs the dietary fats, and certain vitamins and also absorbs cholesterol. Normally people who are affected by this disorder have a situation where lipoproteins, cannot be made, and are molecules that have proteins along with cholesterol, and triglycerides  [...]

Aase Syndrome in Women

Aase-Smith Syndrome or Aase syndrome is an inherited disorder, that is considered very rare and is normally conspicuous as anemia with some deformities in the skeletal structure and joints. This syndrome is considered to be a recessive and autosomal kind of inherited disorder. The basic genetic structure of this disease is not known till now. The anemia that is caused due to the underdeveloped bone marrow where the blood cells normally form. There was an American pediatrician by the name of Jon Morton Aase and the disease has been named after him. Then it was David Weyhe Smith who gave it a character in the year 1968. The symptoms of the Aase Syndrome disease are very gradual and slow. The skin gets pale and the growth is mild and slow. There is a gradual closure of soft spots or fontanelles.  [...]

Hyperemesis Gravidarum – A rare problem in Pregnancy

Hyperemesis Gravidarum or HG is an extreme case of morning sickness,which is accompanied by extreme nausea, vomiting and prevents food intake and fluids. This is considered to be a rare problem in the pregnant woman and is often confusing to diagnose, as it is predominantly haunted by vomiting and nausea which are anyway normal signs during pregnancy. Approximately 0.3% to 2 % of pregnant females suffer from this problem. The word Hyperemesis Gravidarum comes from the Greek word hyper which means excessive and emesis which means vomiting. Gravida comes from the Latin word which means pregnant. So the term Hyperemesis Gravidarum means vomiting in pregnancy. Causes of Hyperemesis Gravidarum The cause of this rare pregnancy problem is still unknown. Some theories hold that the pregnant women  [...]

Grave’s Disease a Rare Skin Problem

Often women have some of the rare diseases for which they are never able to find out the right treatment. But Graves Disease is one of the rare diseases which is found in women but is quite manageable. This autoimmune diseases is found to attack the thyroid. This small gland in the neck region in human beings is called the thyroid and is responsible for the T3 and T4 hormones that regulate the utilization of the energy in our body. The thyroid hormones are managed by the pituitary gland. This small gland in the human brain is the one that stimulates the thyroid hormone TSH and accelerates the process of thyroid making in the body. In Grave's disease, the immune system creates antibodies that give the impression of being TSH but in fact are not. Thus the thyroid hormone is produced more  [...]