Neurofibromatosis (NF) Neu-ro-fi-bro-ma-to-sis (Merriam Webster) Heidi Pasion March 24, 2014 Exploring the Internet BTEC 1510-51 Mousumi Munmun What is Neurofibromatosis? Neurofibromatosis (NF) is a genetic disorder of the nervous system. This can cause tumors to form on the nerves anywhere in the body at any time. Neurofibromatosis affects all races, all ethnic groups and both sexes equally. NF if one of the most common genetic disorders in the United States. NF has three genetically
I. A. Neurofibromatosis, or NF, is the most common neurological disorder caused by a single gene. B. Two types: NF1 and NF2 1. NF1- affects 1 out of 4,000 people 2. NF2- affects 1 out of 50,000 people C. Inherited and autosomal D. Can be potentially fatal E. The Elephant Man, Joseph Merrick, was thought to have NF, but he really had Proteus syndrome F. Neurofibromatosis is a unique disorder because it is incurable, can be severely disfiguring, and can be either benign or terminal. II. A. NF is
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
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
bank is the best and secured method to be applied. On the other hand, it has been reported by De Standaard and Het Nieuwsbald as cited in Torfs, M. (2013) that a sperm bank in Ghent is being a cause of two children infected by a disease named Neurofibromatosis type 1 (NF1) or Von Recklinghausen’s disease. Furthermore, based on the next investigation, the children from the same sperm bank are also suffering the same disease in another place. It is not as safe as we think. It must be due to some of the
Neurofibromatosis Neurofibromatosis (NF) is a genetic disorder, which can affect anyone, that is either inherited by the parents or resulting from a chromosomal abnormality during the reproduction process. According to the Children’s Tumor Foundation in their document ‘Frequently Asked Questions About NF’, there are three different types of NF: 1. Neurofibromatosis Type 1 (affects 1 in 3,000 people) 2. Neurofibromatosis Type 2 (affects 1 in 25,000 people) 3. Schwannomatosis (affects 1 in 40,000 or
Genetic Mutations Introduction A genetic mutation is a permanent change in the sequence of the DNA that makes up a gene. A mutation of these sorts can be caused by either inheritance from the parent or caused sometime during the life of someone. The mutation that has been inherited is called a germline mutation. Germline mutations affect virtually the entire body, and they seem to be present in every cell. A somatic mutation, or one that is caused in the DNA of a single cell sometime during the life
Hospital. It was there were he changed lives. Not only those who just came to visit, but also others who were affected with such a disease either then, or later in life. His story helped doctors and scientist with the diagnosis of others with Neurofibromatosis and Proteus syndrome. Joseph to this day is still a medical mystery, but a miracle one at that.
up gaining dependence on the abused substance. In the case of alcohol, scientific research shows that a certain signaling pathway in the human brain can be connected with alcohol dependence. A gene, called neurofibromatosis type 1, controls this specific pathway. Furthermore, neurofibromatosis controls gamma-amino butyric acid, a chemical in the brain that heightens feelings of relaxation and lowers anxiety. Scientists have found that this gene is associated with excessive drinking in mice. The
RET, NF1, and MAX. Pheochromocytoma has been associated with Von Hippel-Lindau (VHL) syndrome, multiple endocrine neoplasia type 2 (MEN 2), and neurofibromatosis type 1 (NF1). Von Hippel-Lindau disease (VHL) is a condition caused by the mutation of the gene VHL, where cysts and tumors grow on the brain, the kidneys, and adrenal glands. Neurofibromatosis 1 (NF1) is a condition where tumors develop on the skin and optic nerve and is caused by ... ... middle of paper ... ... known as alpha blockers
It is seen that she had gone through the motions of seductions with a man who is diagnosed with neurofibromatosis. He has such gruesome facial composition due to the fact that our culture highly prizes and treasures a certain form of beauty, one with such “imperfection” do not fit nor blend in with the current societal definition and perspective of beauty
Gillian Anderson has exceeded the point of recognition, and has become a role model for young and old alike. Her popularity has evolved over the years due in part for her notorious role as Special Agent Dana Scully, on the once cult hit television series The X-Files. With the show now entering its 7th season, presumed to be its last, the concern of the once apprehensive Gillian losing the role of Scully is no longer an aspect. The reputation of the character has brought the actress apperception,
What happens during the 9 months of embryonic development, can and will determine how the rest of a child’s life will go. A change or mutation can alter the baby’s development in the womb. No, I’m not talking about a Teenage Mutant Ninja Turtle, type of mutation. A mutation is the changing of the structure of a gene, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes. Mutations can cause different outcomes
chromosomes and chromosomal translocations, and each specific alteration has prognostic significance” (Braun & Anderson). Possible alterations that could cause Acute Lymphoblastic Leukemia is “. . . Down syndrome, Ataxia-telangiectasia, and Neurofibromatosis type 1 (NF1)” (KidsHealth, 2014). Also, children who have had radiation or chemotherapy in the past have a higher risk factor. However, this does not mean you will have cancer or doesn’t mean you will have
Epilepsy is a disorder of the central nervous system wherein abnormal brain activity causes seizures, unusual behavior, sensations, and loss of awareness. According to the Epilepsy Foundation of America, there are 65 million people who have epilepsy worldwide. In the United States alone, there are 150,000 new cases of epilepsy every year. What are the symptoms of Epilepsy? The symptoms of epilepsy will vary depending on the type of seizure you experience. Symptoms can include temporary confusion
Celebrity Fight Night Foundation, Children with AIDS, David Foster Foundation, DoSomething.org, Friends of Scotland, Jimmy Fund, Make A Child Smile Appeal, Make-A-Wish Foundation, Mississippi Animal Rescue League, Muhammad Ali Parkinson Center, Neurofibromatosis Inc., Operation Smile, Paralyzed Veterans of America, Pediatric Epilepsy Project, Raising Malawi, Reef Relief, Smile Train, St. Francis Food Pantries and Shelters, The Doe Fund, UNICEFF, and Wounded Warrior Project. Some of the top charity foundations
Hypertension may not be common in children, but if present, may be a problem in children of any age. It is often missed due to medical professionals omitting to take the blood pressure in a child or the technique, used by the doctor to take the blood pressure, is incorrect.[7] In adults a high blood pressure is defined as a BP of 140/90 and higher but in children, to determine if the BP is high, one has to take into account the child’s age, weight and height. A child is said to have hypertension
Just like snowflakes, no two pair of eyes are alike. Sometimes, the two irises are a completely different color! Heterochromia is an uncommon mutation where one the eyes or part of one eye is a different color. This is caused by the lack of melanin (a type of pigment) in the eyes. There are many causes of this mutation. There are two types of Heterochromia: Heterochromia Iridum and Heterochromia Iridus. Heterochromia Iridum is the complete discoloration of the iris from the other iris. An example
When a child is diagnosed with deafness, many parents often wonder what the exact cause of the child’s deafness is. In recent studies (Arnos K. &., 2007) 50-60% of hearing loss (moderate to profound, congenital, or early-onset) have shown genetics to be a large factor. Non genetic factors (i.e. maternal infection, prematurity or postnatal infection) may cause 40-50% of the remaining hearing loss. About one-third of children with hereditary deafness have features that are part of a genetic syndrome
The Use of Recombinant DNA Technology Recombinant DNA technology is the technology of preparing recombinant DNA in vitro by cutting up DNA molecules and splicing together fragments from more than one organism.(1) This is the process of using recombinant DNA technology to enable the rapid production of human protein from a single gene of insulin. Firstly the single gene required must be isolated. This can be done three ways: Either by working backwards from the protein- Finding the amino