Rett Syndrome

Rett Syndrome
Rett syndrome (RTT) is a neurodevelopmental disorder that is easily confused with other disorders like fragile X syndrome and Down syndrome, due to the autistic features. RTT is usually caused by a mutation in the gene encoding menthyl-CpG-binding protein-2 (MECP2). Since Rett syndrome is X-linked dominant, males with this disease usually die within the two years or so. However, females can live up to sixty years old while having this disease and the severity varies depending on the type and position of then MECP2 mutation and the pattern of the X-chromosome inactivation within the brain. In addition, it is believed that MECP2 mutations are more common in sperm, which is a cause of more RTT victims are females because they inherit a mutated MECP2 gene from their fathers. Many girls with Rett syndrome are prone to seizures, gastrointestinal disorders, growth failure, and socialization problems. Moreover, many symptoms, similar to autism, in infants are panic attacks, screaming fits, loss of speech, and lack of social and emotional reciprocity. More symptoms are grinding of teeth, spasmodic movements of hand or facial features, poor head growth, decreased body fat and muscle mass, scoliosis, chewing/swallowing difficulties, abnormal sleep patterns and movement disabilities. Additionally, seizures may become challenging and the intensity of them varies. As of right now, there is no cure for RTT. Nonetheless, there are many different ways to treat Rett syndrome. Of those include prevention of seizures, managing gastrointestinal and nutritional issues, increasing one’s communication skills, and decrease social difficulties. These kinds of treatments usually require consultation and help from speech and physical therapists, nutritionists, and psychiatrists. Lastly, worldwide, Rett syndrome seems to affect 1 in every 10,000-23,000 live female births

Information: http://www.rettsyndrome.org/content.asp?pl=147&sl=961&contentid=961, http://www.ninds.nih.gov/disorders/rett/rett.htm, and http://www.rettsyndromealberta.org/

Hemochromatosis Jess W

Hemochromatosis is an iron overload disease, where the body stores too much iron. There are two types of this iron overload disease, there is Primary Hemochromatosis and there is Secondary Hemochromatosis. The first, Primary Hemochromatosis, is caused by a mutation of the HFE gene; and the second, Secondary Hemochromatosis, is caused by anemia, alcoholism, and other disorders. Those with hemochromatosis absorb 30% of the iron they eat, which is in red meat and iron-fortified breads and cereals; while the healthy person would only absorb 10% of the iron in the food. The body can’t rid it’s self of extra iron so it has to be stored in tissue, mostly in the liver. Some of the symptoms of hemochromatosis are arthritis, liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure, damage to the pancreas, possibly causing diabetes heart abnormalities, such as irregular heart rhythms or congestive heart failure, abnormal pigmentation of the skin, making it look gray or bronze, thyroid deficiency, damage to the adrenal glands. This disease, if unchecked can cause the failure of the liver, heart, and pancreas, causing death. But hemochromatosis can be found early through thorough routine physical exams and blood tests, to rule out the symptoms. If the disease if caught early there is a treatment, the first thing is to get rid of the excess iron by taking out a pint of blood, just as donors would, you would do this once or twice a week for several months to a year depending on how much iron is in your blood. Then blood ferritin levels to monitor iron levels; next you would begin maintence therapy which would involve giving a pint of blood every 2 to 4 months. 
The picture is of normal liver cells with normal amount of iron on the left, on the right is liver cells with too much iron, notice the color is a deep red iron gives blood it’s red color.
Information source: http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm
Image from: www.brown.edu/.../Digital_ Path/hemochromo.html