Neurofibromatosis
Neurofibromatosis is a disorder affecting the chromosomes of the human body. It is a hereditary disorder affecting the nervous system. The term neurofibromatosis actually refers to two different genetic diseases. The most common type is NF 1, and the less common type is NF 2. Both disorders are transmitted in an autosomal dominant fashion. An autosomal dominant disease is a disorder caused by the presence of a single autosomal dominant gene; an abnormal factor located on any chromosome other than the sex chromosome. They are both characterized by occurrences in multiple neurofibromas.
The main symptom of these disorders is tumors that form on the ends of nerves throughout the body. NF 1 is most commonly diagnosed during childhood. The most outstanding symptoms seem to occur during adolescence and pregnancy. Although the symptoms of NF vary and are unpredictable another common sign is brown spots on the skin. The markings on the body usually measure .5cm in diameter for younger children and can reach 1.5cm by adulthood. They can also decipher NF by observing markings or freckling on the iris.
The most common tumors occurring with NF 1 are located under the skin. They have even been found in deeper areas of the body. The amount or severity of pain from these tumors can range from minimal pain sparsely to intense pain constantly. One of the most severe results and the most apparent results of these tumors is disfigurement and orthopedic problems. These problems include scoliosis and pseudoarthrisis. There also may be some delaying in sexual maturation. There are many more learning disabilities and optic problems that may develop throughout their life.
Neurofibromatosis 2 has symp...
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...ody and face. His right hand was 3 to 4 times larger that the average man. His life had certainly spread the knowlage and increased the knowledge we have today of Neurofibromatosis.
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Cook, Robert. 1994. The Gene Wars: Science, Politics, and Human Genome. W.W. Norton Co., New York.
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FOP occurs randomly and is not inherited. Experts believe that one cause of fibrodysplasia ossificans progressiva is born with mutations in the ACVR gene what provides the body with instructio...
These recurrent nodules and abscesses not only cause pain, but self-consciousness, social isolation and even depression. Other less common complications include severe infections, restricted movement caused by a buildup of fibrosis and a type of skin cancer called squamous cell carcinoma.
The disease Angelman Syndrome, named after the physician Harry Angelman, was first diagnosed in 1965. It is now known that the disease results from the loss of function of UBE3A, a gene. One is normally inherited from each parent. The copy inherited from the mother is active in certain areas of the brain. If this copy of the gene UBE3A is lost due to chromosomal change or gene mutation, the lost gene will not have active copies in parts of the brain. A majority (70%) of Angelman syndrome cases happen when a segment of the maternal chromosome 15 is lost or destroyed. A minority of the disease is caused by a mutation or loss of function of the mother’s copy of the UBE3A gene. The majority of cases result from uniparental disomy, which is when the son or daughter inherits two copies of chromosome 15 from his or her father. Translocation, or chromosomal rearrangement, can also cause the disease. Most cases of this disease are not inherited, instead are a result of deletion in the maternal chromosome 15. Across 1. 2 copies of chromosome 15 are inherited from the father Down 1 Person who first diagnosed this disease 2 Disease the magazine is about 3 A gene 4 a minority of this disease is caused by this 5 Chromosomal rearrangement DISEASE BACKGROUND PAGE 1
Marfan syndrome is a Single Gene Mutation and the gene that is mutated is FBN 1 (Fibrillin 1).The gene is located on chromosome 15 and the disorder’s mode of inheritance is autosomal dominant. This means that females and males are equally affected and that only one gene, “abnormal” gene is needed from either parent to be inherited in. Fibrillin 1 basically affects the elasticity of connective tissue. The gene makes many fibrillin proteins and these fibrillin proteins then join together to form a long, and string like object called microfibrils.
It’s a “nonlesion” syndrome , exhibit no clinically detectable lesions, although symptoms of pain and burning can be intense. This is particularly frustrating problem for both patient and clinician, because there is usually no clear cut cause and no uniformly successful treatment is present.
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Marfan Syndrome is name after Antoine Marfan. He was a French pediatrician who first describe the condition in 1896. Marfan Syndrome other known as the connective tissue disorder, is an inherited tissue disorder. It is the missfloding of protein fibrillin. (code fibrillin-1) Marfan affects the connective tissue of heart, blood vessels, eyes, bones, lungs and covering of spinal cord. There are so many affected parts in the body because of Marfan Syndrome, because of this it can cause many complications which can be life threatening.
Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder is caused by a series of repeats of a trinucleotide region that is expanded beyond the normal levels (Musova et al., 2009). The trinucleotide region is a series of repeats of CTG in the untranslated region of the dystrophia myotonica protein kinase gene. The severity of the disorder is associated with the number of repeats the individual has within the gene. Normal individuals tend to have between 5 and 37 repeats while an individual with a very mild myotonic dystrophy may have 50 to 150 repeats, and if the disorder is discovered at the time of birth the individual will have over 2,000 repeats of the trinucleotide region (Musova et al., 2009). Myotonic dystrophy, type 1, affects multiple organ systems of the body and is relatively slow to progress. Myotonic dystrophy, type 1, is categorized by alterations of the beating pattern of the heart, faulty dystrophin proteins, clouding of the lens of the eye, decreased functionality of the gonads, balding, and myotonia (Musova et al., 2009). Myotonia is described as the slow relaxation of any muscle type, which will cause the individual to use extended effort to simply relax the muscles after they have been contracted. Muscular dystrophy causes an individual to experience muscular deg...
Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this genetic mutation manifests thought out the body, the presenting symptoms, the risk factors, treatment, and education needs of the patient.
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How does one see the symptoms for childhood cancer? First one must know that there are many different types. There are forty different types of children’s cancer, including: Leukemia, Lymphoma, Sarcomas, cancers of the nervous system, liver cancers, kidney cancer, and more. Out of these cancers, the two most common childhood cancers are Leukemia, and brain tumors. What is leukemia? It is a cancer in which the bone marrow and other organs that produce blood produce and increased amount of immature or abnormal white blood cells. The symptoms of leukemia are paleness, excessive bruising, pain in the joints, and fatigue. Brain tumors are formed when a massive amount of cells are produced on the brain. The symptoms for this are frequent headaches, vomiting, seizures, decreased coordination, weakness, and problems concerning vision.