Hemophilia- Brooke Untiedt Period 3

Hemophilia is a rare inherited bleeding disorder in which the blood does not clot normally. Persons with hemophilia may bleed for longer than a person without this disease after they have gotten an injury or been in an accident. They can also bleed internally such as in the joints like the knees, ankles and elbows.

Jen Spanedda - Alzheimers Disease

Jen Spanedda - Period 8 Biology - Mr. DeJulio
Alzheimer's disease (AD), also known simply as Alzheimer's, is a neurodegenerative disease distinguished by progressive cognitive decay together with declining activities of daily living and neuropsychiatric symptoms or behavioral changes. It is the most common type of dementia, often occurring in the elderly over age 60.

The most recognizable early symptom is loss of memory (amnesia), which usually becomes visible as minor forgetfulness that becomes more pronounced with illness progression. There is a relative possession of older memories. As the disorder progresses, intellectual mutilation extends to the domains of language, fine motor skills, recognition of family, friends, or acquaintances, and those functions like decision-making and worsen as the disease progresses. This pathological process consists predominantly of neuronal loss or atrophy, principally in the temporoparietal cortex, but also in the frontal cortex, together with an inflammatory response to the deposition of amyloid plaques and neurofibrillary tangles.

The cause of the disease is unknown. Genetic factors are known to be important, and dominant mutations in three different genes have been identified that account for a much smaller number of cases of Alzheimer’s. There are no ways to cure Alzheimer’s, although there are several treatments that can help delay the symptoms.

Alzheimer’s disease can be very stressful on families. How would you like it if your family member, or friend, could not recognize you? What if they woke up every morning and did not know where they were, or who they were? About 4 million older Americans have Alzheimer's. This number is expected to triple by the year 2050 as the population ages. You can go here: http://www.alzfdn.org/ to learn more about Alzheimer’s and how to help fund research for cures and treatments.


Resources:
http://www.nlm.nih.gov/medlineplus/alzheimersdisease.html
http://en.wikipedia.org/wiki/Alzheimers">http://en.wikipedia.org/wiki/Alzheimers

mucopolysaccharidoses Steve S

Steve S said...
The mucopolysaccharidoses are several inherited diseases caused by the absence of enzymes needed to break down glycosaminoglycans, or chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. Glycosaminoglycans are also found in the fluid that lubricates our joints. People with this disease either produce enzymes that do not work correctly, or do not produce these enzymes in the first place. Over time, these glycosaminoglycans collect in the cells, blood and connective tissues. The result is permanent, cell damage that affects the individual's health in many ways, and most notably makes them physically weak. Currently there is no cure for this disease. Medical care is directed at treating conditions and improving the person's quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move, which is a good thing.

thrombocytopenia-absent radius (TAR) syndrome J.R.

J.R. S said...
The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterized by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. This leads to bruising, lowered platelet count, and potential life threatening haemorrhageing. Treatments range from platelet transfusions and range all the way to trying to normalize the appearance of the arm, which is much shorter and “clubbed”. There is some controversy surrounding the role of surgery. The infant mortality rate has been curbed by new technology, including platelet transfusions, which can even be performed in utero. As the children grow in age the platelet counts improve with the aging process.
http://www.emedicine.com/ped/images/906TAR_1.jpg.jpg

Fibrodysplasia ossificans progressiva (FOP) Lago

Fibrodysplasia ossificans progressiva (FOP), is a rare disease of the connective tissue. Children born with FOP characteristically have small big toes. The first sign that leads to the formation of FOP bones is usually before the age of 10. It is considered a genetic disease because the bone growth starts from the top down just as bones grow on fetuses, for example a child with FOP will develop bones starting on the neck, then shoulders, arms, chest and on the feet. Often, a tumor like lumps will appear suddenly overnight. The gene is normally deactivated when the child´s bones are made in the womb, but in patients with FOP this gene keeps working. Because the disease is so rare, the symptoms are often misdiagnosed as cancer. This leads doctors to order biopsies, which can actually increase the growth of these lumps. Those diagnosed with FOP should try to avoid falling or getting bruises, and avoid intramuscular injections since these can cause bone to grow. Likewise, people with FOP should never stretch their joints outside of their normal range of motion. FOP is caused by an autosomal dominant allele on chromosome 2q23-24. Most cases are caused by spontaneous mutation in the gametes. Most people with FOP cannot have children. About 2,500 cases have been reported to date, but a study has determined that it affects approximately 1 in 2 million people.
http://www.uphs.upenn.edu/ortho/oj/pics/p59f1.jpg

Cystic Fibrosis

Madeline G.


Cystic Fibrosis (CF) is an inherited disease which affects the lungs, digestive system, sinuses and sex organs. CF is caused by a defective gene and its protein product, the defected gene is called the cystic fibrosis transmembrane conductance regulator (CFTR). Affected individuals will have two copies of the mutated CFTR gene, one inherited from each parent. This defect causes the body to produce thick sticky mucus that blocks the pancreas and stops the natural enzymes from helping your body absorb and breakdown food. The mucus also clogs the lungs, creating breathing problems, and making your lungs more susceptible to bacterial growth.
There isn’t any one person who discovered CF. The understanding of this disease was more an evolution of descriptions of symptoms and findings that are now associated with CF.
Those with CF may have a range of different symptoms such as salty-tasting skin, constant coughing, frequent lung infections, shortness of breath, poor weight and growth gain and difficulty in bowel movements.
There is no way to prevent cystic fibrosis, or to cure cystic fibrosis at this time. Treatments include antibiotics for infections of the airways, chest physical therapy, exercise and sometimes anti-inflammatory medication.
CF affects about 30,000 adults and children in the United States, and 70,000 worldwide.


Sources:
http://www.cff.org/AboutCF/
http://www.nlm.nih.gov/medlineplus/cysticfibrosis.html
http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_causes.html
http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_treatments.html
http://ghr.nlm.nih.gov/condition=cysticfibrosis
http://www.uhseast.com/121775.cfm

Tay-Sachs Kurt Nascewicz Period 3

Tay-Sachs - Kurt Nacewicz
Tay Sachs is a fatal genetic disorder when harmful quantities of a fatty substance accumulate in the nerve cells in the brain. The fatty substances are called ganglioside GM2. Tay Sachs has three types; infantile or early onset, juvenile, and adult or late onset. It was discovered in the mid 1880’s when Dr. Tay noticed characteristic spots in the retina of babies with the problem. Each sex is equally affected with the Tay-Sachs disorder, but the same cannot be said about race. Tay-Sachs is most common in Jews of European decent. One in every 27 Jews in the United States is thought to be a carrier of Tay-Sachs. In the general population the incidence of Tay-Sachs carriers is 1 in 250.
Some symptoms of Tay-Sachs start at a very young age, at only about six months; they lose motor and mental skills, and never gain them. This followed by the baby getting paralysis and death by age 5.But if Tay-Sachs starts later in your life then the symptoms are not as serious. When you are affected with Juvenile Tay-Sachs the symptoms are similar to early onset Tay-Sachs just don’t move as fast and are not as serious. Adult onset Tay-Sachs starts much later in life and is not very serious. Some symptoms of Adult onset Tay-Sachs are muscle weakness, cramps, slurred speech, and behavioral changes.
Tay Sachs is caused by a mutation in the HEX A gene on chromosome 15. HEX A normally codes for the alpha subunit of hexosaminidase A protein. This is what is responsible or the GM2 gangliosides brake down in the nerve cells. In fact too much accumulation of GM2 in the nerve cells will be too much toxic to handle and will lead to death. It is inherited from your parents genes.. It can be illustrated and seen threw a punnet square. This is autosomal dominant and recessive, depending on what gene you get. There is no cure for Tay-Sachs the only thing you can do is get tested and stop mutation.
http://www.accelrys.com/reference/gallery/life/gm2.jpg