Disease Symptoms Neurofibromatosis type 2 (NF2) is a disease in which benign tumors develop and grow on various types of nerves along the central nervous system. It is caused by a mutation in the gene neurofibromonin-2. This gene typically acts as a tumor suppressor; a mutation in this gene causes failed suppression of tumors, resulting in the uncontrolled cell division that leads to the formation of tumors. These tumors develop and grow on various nerves along the central nervous system, directly affecting the nerves’ functions and therefore affecting an individual, specifically in the central nervous system. For instance, one vestibular schwannomas are a type of tumor which develop as a result of this disease. They grow on and affect …show more content…
One of the biggest complications as a result of this disease is deafness; bilateral vestibular schwannomas can cause hearing loss, but if left untreated, the tumors will continue to grow and further affect hearing. The presence of these tumors, in general, is dangerous to an individual. Brain tumors and spinal tumors can form and based on their location, can significantly affect an individual. There are two methods to eliminate the schwannomas: microsurgical tumor resection and stereotactic radiosurgery (OMIM). Both methods involve tumor removal, which may hinder development of additional tumors. Failure to resort to either of these methods will result in a lesser quality of life and consequently, more serious complications for the affected …show more content…
Research, though, has not revealed areas in the world where the disease is most prevalent or the ethnicities that carry a higher risk for the disease. The full name of the gene that is affected, and consequently causes NF2, is neurofibromin-2 (OMIM). The gene symbol is Nf2, so in order to differentiate between the disease and the gene, the gene will be referred as an alternate name: merlin. Merlin is found on chromosome 22, and the specific location on which it is found is 22q12.2 (OMIM). Merlin typically acts as a tumor suppressor; NF2 is caused by a mutation in the gene sequence. When it is mutated, it fails to do its job as a tumor suppressor and therefore allows cells to divide uncontrollably, forming tumors. These tumors develop on critical nerves in the central nervous system. Depending on which type of nerve it has grown on, the consequences can be minor or severe. Research has not specified which ethnic groups are affected by the disease, nor which ethnic groups are at a higher risk for having the disease.
This can potentially be a problem as all humans are different, and therefore each case is different. Race can sometimes be a misleading factor that leads to a false, premature diagnosis but this is so rare. When diagnosing a disease, medical professionals send results into a lab to be tested. Stating that knowing the race of a patient often causes misdiagnoses is absurd.
Glioblastomas (GBM) are tumors that arise from the supportive tissues of the brain. These supportive tissues are composed of astrocytes, star-shaped glial cells that play a very important role in neural functioning. Glioblastomas are highly malignant because astrocytes reproduce quickly and are supported by a large network of blood vessels. Although they are generally found in the cerebral hemispheres of the brain, glioblastomas can be found anywhere in the brain or spinal cord. The tumors come from normal brain cells, so it is easy for them to invade and live within normal brain tissue. However, glioblastoma rarely spreads elsewhere in the body. (1)
Canavan disease is thought to effect less than a thousand people in the United States. One in forty are carriers for the disease. It occurs within people of all ethnic backgrounds but most commonly found in the people of Ashkenazi Jewish heritage. This is thought because those of the Jewish faith often marry within the same group or culture. These people are a group located mostly in eastern and central Europe.
Many may wonder if nodules are cancerous, the answer is that they're not. They are just simply growths that affect the voice. Treating these nodules is simply stated. A specialist will first tell a person with a nodule to completely rest their voice. Rest is just the first step and will not get rid of them by that alone. If you are a speaker then speech therapy is recommended and if you're a singer than receive singing exercises from professional help. Surgery is that last result and is very uncommon. It is rarely necessary and is only for nodules that are extremely large or if six weeks of training and help left with no result at all. It is mainly an issue for children who are of the age of 10 or under. There are known to be some logical reasons why surgery is rarely recommended for them. Usually if a child has a nodule removed, it will most likely re-occur or come back and there would have been no point of removing it in the first place. Another thing is that children abuse their voice much more often than adults. This is just because they scream and carry on more often than adults ever would which results in possibilities of seeing the nodules resolve around the time the children hit puberty. For girls who are in their teens and becoming something like a cheerleader who constantly has to yell, future problems can occur. Schools rarely recommend speech therapy because most often it doesn't help.
people have been known to get it. There is no specific race or ethnic background
Neurofibromatosis Type 1 is one of the most common genetic disorders affecting more than 100,000 Americans. Although the majority of cases show a distinct inheritance pattern, still 30-40 percent of cases arise from spontaneous mutation in the Nf1 gene. Common symptoms of the disease include brown spots on the skin known as café au lait spots, neurofibromas, growths on the eyes and optic nerve, and abnormal development of the spine, skull, and tibia. Around 50 percent of patients with Neurofibromatosis type 1 suffer from painful skeletal manifestations due to abnormal development of the bones. The exact cause of the skeletal abnormalities associated with the disease is still unclear, but the lesions are thought to result from bone cell autonomous mutations, in which only the genotypically altered bone cells are affected.
The contributing factor is lack of knowledge and family medical screening. Understanding the history of your genetic line specific to your race and ethnicity may be helpful in preventing heart disease later on in adulthood.... ... middle of paper ... ... Current studies of note have focused primarily on middle-class and/or suburban populations.
The disease is found in a mutation on the HEXA gene. The HEXA gene makes beta-Hexosaminidase A, an enzyme that is necessary for proper spinal cord and brain development. This works to break down GM2 ganglioside, a fatty substance. When a mutation occurs here, the GM2 ganglioside can’t be broken down, accumulating to harmful levels in neurons of the brain and spinal cord, which results in the damaging symptoms of the disease.
Marfan syndrome is an autosomal dominant disorder resulting from mutations in the gene fibrillin-1 (FBN1) found on chromosome 15 (McKusick V, O'Neill M, 2013). At least 140 different mutations of this gene have been recorded since 2008 (Frey R, Lutwick L, 2009). The FBN1 gene regulates the manufacturing of the fibrillin-1 protein that assists in constructing fibrous filaments which are present in portions of the fibers in connective tissue (Frey R, Lutwick L, 2009). Those filaments manage the discharge of growth factors or protein molecules which prompt the reproduction and growth of cells (Frey R, Lutwick L, 2009). In healthy individuals, the filaments discharge growth factors at the right moment but those who have Marfan syndrome are faced with the dilemma of growth factors being discharged too soon. The early release of growth factors results in fragile connective tissue and the uncommonly lengthy limbs of those with the disorder.
Diseases lie in a large geographical content. Lyme disease is mostly found in the United States of America and Europe.
The human population has a high susceptibility to the contraction of new diseases and outbreaks of these diseases are of high risk. Diseases in recent times that have broken out into the human population are the H7N9 flu strain and SARS. Despite the risk, outbreaks like H7N9 and SARS have been controlled due to epidemiology and other disease control methods. Outbreaks of disease are not uncommon to the human population as they move to new areas around the world with foreign diseases that the native residents would have developed a resistance to.
Incidence and Prevalence :Intracranial (brain) tumors account for 85 to 90 percent of all primary central nervous system (CNS) tumors. Primary tumors arising from the spinal cord, spinal nerve roots and dura are rare compared to CNS tumors that arise in the brain. Overall prevalence is estimated at one spinal tumor for every four intracranial lesions. About 10,000 Americans develop primary or metastatic spinal cord tumors each year.
...urgery, and radiation therapy. Due to the fact that acoustic neuromas grow slowly, immediate treatment may not be necessary so Doctors will monitor the tumor with periodic MRIs and suggest other treatment if the tumor enlarges. Surgery may involve all or part of the tumor. There are three main surgical approaches translabyrinthine, retrosigmoid/sub-occipital, and Middle fossa. There is also a new technique called endoscopic resection which enables surgeons to remove acoustic neuromas using a small camera inserted through a hole in the skull. There are two types of radiation therapy: the first is Single fraction stereotactic radiosurgery (SRS) and Multi-session fractionated stereotactic radiotherapy (FRS), Selecting the right treatment depends on the size of the tumor, whether the tumor is growing. age. other medical conditions you may have and severity of symptoms.
Marfan syndrome is a genetic disorder that affects the connective tissue. It is the most common inherited disorder of connective tissue that affects multiple organ systems. It is also called arachnodactyly. This autosomal-dominant condition has an incidence of 2-3 per 10,000 individuals. It is caused by a defect in the gene that tells the body how to make firillin-1. This a protein that helps make up connective tissue. The mutation causes more of the protein called transforming growth factor beta to be produced. Because connective tissue is located throughout the body many different parts of the body can be affected.
Tumors are formed by the alteration of the body’s own cells. This can be caused by environmental factors such as radiation, like UV exposure, chemicals or viruses 1. These can disrupt genes that control growth and cause an increase in cell division and proliferation. Proto-oncogenes are those genes that control normal but essential cell processes that keep cell growth and death in check. Two important categories are apoptosis genes, which regulate cell death, and tumor suppressor genes, which decrease cell propagation 1 . If these genes were mutated to the point where they cannot produce a functioning protein, cell division would continue far past what it was supposed to and unhealthy cells would be allowed to live and continue to multiply. This is what creates a malignant tumor. Certain conditions in the body can also promote the growth of cancer cells. One of these is a deficiency of natural killer (NK) cells, which are able to kill cancer cells by creating a pore in the cell membrane with perforin and releasing granzymes into the cell. Low levels of perforin allow for tumor growth 1. Chronic inflammation can also ...