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

Blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome, also known as the Bean syndrome, is an uncommon neurocutaneous disorder where scattered, bluish, rubbery nevi occur on the body surface. It was named this because of the blueness of the nevi’s and the rubbery texture that the nevi’s had. It was first observed by Gascoyen in 1860 because a tumor/nevi was suffocating one of their patients. These skin lesions are noticeable at birth and continuously bleed and can occur in internal organs in the body. Symptoms of blue-rubber-bleb-nevus-system would include, clumsiness, dark purple nevi’s, and muscle weakness, bleeding, and anemia, however, these nevi’s would not be cancerous and can also vary in size, shape, color and number and can be sensitive to touch. It can occur in the “intestine, eyes, nasopharynx, parotids, lungs, liver, spleen, heart, brain, pleura, peritoneum, pericardium, skeletal muscles, bladder, and penis lesions” (http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0041-878120000001000060). The causes in this syndrome are unknown it mostly occurs in sporadic cases and is hard to be monitored and they will increase in size and number. This disease affects both males and women but it is rare in the black race. There have been 150 recorded cases and even in a family where there is no sign of the disease a child can still be affected by it.

Steven Musco




Fragile x chromosome is the most common inherited cause of mental retardation. The disorder fragile x syndrome is a mutation of the FMR1 gene on the X chromosome. This disorder occurs more in males than another X chromosome because males only have one X-chromosome and if the disorder is on that X chromosome, then there would be no way it would cover it up. In females, since they have two X chromosomes, the symptoms wouldn’t be as severe because only one X chromosome has the disorder and since females have 2, then the other X chromosome could cover up the diseased one. Some symptoms of fragile x syndrome are intellectual disability, elongated face, large or protruding ears, flat feet, large testicles and low muscle tone. Also hand flapping, atypical social development, shyness and limited eye contact can occur. These symptoms would be more severe in males than females. At this time there is no cure for this but there is optional therapy for speech and language. Medications can be helpful for aggression, anxiety, hyperactivity and poor attention span. I think that since this syndrome is a very common one, it will be hard to control and stop because it comes in many different forms.


http://en.wikipedia.org/wiki/Fragile_x_chromosome
http://www.fragilex.org/html/summary.htm

Huntington's Disease

Adriana Singer
CPABiology 8
5-4-2007
Huntington’s disease way named after George Huntington in 1872 after he wrote a precise description of Huntington’s Disease in his first medical paper. However in the last few decades HD (Huntington’s disease) has been heavily researched. This information tells us that 8 in every one hundred thousand people have the disease. However, one in twenty thousand people in western Europe have the disease while one in one million have the disease in Africa and Asia. It is also not gender bias, in other words it is about fifty percent males and fifty percent females.
There are two problems when diagnosing this disease. The first is not many people know what HD is and second, the symptoms. The symptoms include involuntary movement, memory loss, behavior and emotional changes. these are hard to recognize as HD because they are subtle and not noticeable it you are not looking for the symptoms. The one thing that remains is that this Disease is, unfortunately, fatal.
This disease is caused by an increase of the code C,A,G, repetition in the huntingtin gene on the fourth chromosome. There are normally nine to thirty-five repeats in the code, but in HD there are thirty-six to one-hundred-twenty-one repeats. The number of repeats is directly linked with when symptoms start to show. Like if you have between thirty-six and forty repeats, symptoms may never happen. Your parents may not even have the disease and you could still have it. This happens when the father has between twenty-seven and thirty-five repeats. What happens is more repeats are created with the chromosome is in the sperm or in early embryo. This only happens if the father has a high number of repeats. However, the more common way is either the mother, father or both have the gene and they pass it on to their children.
Unfortunately there is no cure for the disease. However, there are treatments for the symptoms. Anti-depressants for depression, anti-conversant for the involuntary movement and other medications like these. There is also no way to prevent the disease. However, IVF allows a test to see if the embryo will have HD. This is a simply DNA test that copies the repeats and sees if they are larger then normal huntingtin genes. This test is 99% accurate and is much easier than the old version of testing.

http://medgen.genetics.utah.edu/photographs/diseases/high/cns239.jpg
http://en.wikipedia.org/wiki/Huntington%27s_disease
http://www.ygyh.org/hd/whatisit.htm

Retinoblastoma

Laura Rice
CPA Biology 8
Retinoblastoma




Retinoblastoma is a type of cancerous tumor that develops in the retina of young children. The tumor can be treated and can eventually be cured but there are risks of endangering the child’s eyesight with treatment. Retinoblastoma can occur in one or both eyes. In some cases it is hereditary but in most cases the parents had never had the tumors.
The most common symptom of Retinoblastoma is the cat’s eye reflex in which the area behind the pupil appears white. Other symptoms include redness, inflamed tissue around the eye, poor vision, and sometimes cross-eyes. Some forms of treatment may be removal of the affected eye and replacement with a prosthetic, external beam radiation, plaque radiation therapy in which doctors place radioactive plaque near the tumor, photocoagulation which is a laser treatment, cryotherapy which involves freezing the tumor, and chemotherapy that treats the cancerous tumors. The best reatment to use must be decided by the size and condition of the tumors.
After treatment children may have vision problems and different tumors may occur. Retinoblastoma is caused by mutations to the retina located in chromosome 13.

www.oncolink.org/types/article.cfm?c=14&s=52&ss=416&id=9163
http://www.visitech.org/retinoblastoma.html
http://www.aafp.org/afp/20060315/1039_f3.jpg

Von Hippel-Lindau Disease

By: Victoria Summerlin

Von Hippel-Lindau Disease is a rare genetic disorder that causes irregular growth of tumors in different parts of the body. Blood vessels grow out of control and eventually become cluster-like tumors called “hemangioblastomas” which grow in the central nervous system, or specifically called “angiomas” which develop in the eye. These hemangioblastomas may grow in the brain, the retina, and other areas of the central nervous system. Sometimes other tumors develop in the adrenal glands, kidneys, and the pancreas. Eugen Von Hippel first found angiomas in the eye in 1904 and Avrid Lindau first found hemangioblastomas in the cerebellum and spine in 1927. Von Hippel-Lindau Disease influences male and females of all different ethnic backgrounds and will most likely affect 1 in 36,000 people.
Symptoms of Von Hippel-Lindau disease are tumors of the eye, brain, kidney, and adrenal glands. It is also possible that tumors will develop in other parts of the body. The tumors may cause headaches, problems with balance, dizziness, weakness, blurred vision, and high blood pressure. The prognosis is dependent on the patient’s situation with the tumors, but for most Von Hippel-Lindau disease may lead to blindness and permanent brain damage; also death may occur if there are difficulties with brain tumors or tumors in the kidneys.
Von Hippel-Lindau disease is autosomal dominant. It is caused by an abnormal change in a gene on chromosome 3, which functions to produce a protein that acts as a suppressor of tumor growth.
There is no known cure for Von Hippel-Lindau disease, but treatments usually depend on the type of tumors. Surgery is common to remove the tumors before they become dangerous.
There is no way to prevent Von Hippel-Lindau disease, however you can been regularly screened to detect Von Hippel-Lindau disease symptoms and being treated immediately. Also, things you can do daily to reduce the risk for cancer, (which is affiliated with Von Hippel-Lindau disease) are eating lots of fruits and vegetables, not smoking, and limiting alcohol consumption. The only true way to prevent complications involved with Von Hippel-Lindau disease is to know your family medical history.

Sources:
http://healthlibrary.epnet.com
http://www.ninds.nih.gov
http://rarediseases.about.com
http://ghr.nlm.nih.gov

Rachel P - Osteogenisis Imperfecta

Osteogenesis imperfecta also called the brittle bone disease, is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four recognized forms of the disorder, representing a range of severities. People with Osteogenesis imperfecta have less collagen than normal, or it is less quality. The earliest studies of this disease began in 1788 by Olof Jakob Ekman. The prognosis for an individual with OI varies greatly depending on the number and severity of symptoms. Despite numerous fractures, restricted activity, and stunted growth, most adults and children with OI lead productive and successful lives. Symptoms of OI are weak bones, hearing loss, blue sclerae (where the whites of your eyes have a blue tint). Bone fracture, more than one broken bone at a time, fractures present at birth, Deformed or short legs or arms, curved or humped spine. Most cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Less commonly, osteogenesis imperfecta can have autosomal recessive pattern. This means that the parents of a child with an autosomal recessive disorder are not affected, but each carry one copy of the altered gene. Different treatments would be determined based on patients age, overall health, and medical history extent of the disease, patients tolerance for specific medications, procedures, or therapies expectations for the course of the disease, opinion or preference. As of now, there are no known cures for osteogenesis imperfecta. The goal of treatment is to prevent deformities and fractures and allow the child to function as independently as possible. The most common treatments are extensive surgical and dental procedures, and physical therapy. The picture shows collagen that is under developed.