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Thesis paper on neurofibromatosis
Thesis paper on neurofibromatosis
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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 distinct forms are NF1, NF2 and Schwannomatosis.
NF is very unpredictable and there is many manifestations of severity. There is no cure for NF even though Both NF1 and NF2 have been identified. (Neurofibromatosis Network) NF is not contagious. NF can cause growth of non-cancerous tumors on nerve tissues that will produce skin and bone abnormalities. Some people are widely affected by NF. Where some are unaffected and then there are some who are severely disabled. Neurofibromas are tumors that are usually non-cancerous that grown along the nerves in the on or under the skin. The usuall...
Flaccid dysarthria results from damage to the lower motor neurons (LMN) or the peripheral nervous system (Hageman, 1997). The characteristics of flaccid dysarthria generally reflect damage to cranial nerves with motor speech functions (e.g., cranial nerves IX, X, XI and XII) (Seikel, King & Drumright, 2010). Lower motor neurons connect the central nervous system to the muscle fibers; from the brainstem to the cranial nerves with motor function, or from the anterior horns of grey matter to the spinal nerves (Murdoch, 1998). If there are lesions to spinal nerves and the cranial nerves with motor speech functions, it is indicative of a lower motor neuron lesion and flaccid dysarthria. Damage to lower motor neurons that supply the speech muscles is also known as bulbar palsy (Pena-Brooks & Hedge, 2007). Potential etiologies of flaccid dysarthria include spinal cord injury, cerebrovascular accidents, tumors or traumatic brain injury (Pena-Brooks & Hedge, 2007). Possible congenital etiologies of flaccid dysarthria include Moebius syndrome and cerebral palsy. Flaccid dysarthria can also arise from infections such as polio, herpes zoster, and secondary infections to AIDS (Pena-Brooks & Hedge, 2007). Additionally, demyelinating diseases such as Guilian-Barre syndrome and myotonic muscular dystrophy can also lead to flaccid dysarthria (Pena-Brookes & Hedge, 2007). The lower motor neuron lesion results in loss of voluntary muscle control, and an inability to maintain muscle tone. Fasciculations, or twitching movements, may occur if the cell body is involved in the lesion (Seikel et. al., 2010). The primary speech characteristics of flaccid dysarthria include imprecise consonant production, hypernasal resonance, breathiness, and harsh voice (...
1. James suffers from a condition called Duchenne muscular dystrophy. Explain the full meaning of this name.
A Brain Tumor is a mass of abnormal cells that vary in size. They can also be classified as Benign or Malignant. Benign Tumors are non-cancerous, and have definite borders that make removal of the entire mass possible. On the other hand, Malignant (Cancerous) Brain Tumors spread, aggressively invading nearby tissue, and have a higher chance of recurring after surgical removal.
Multiple sclerosis is a chronic disease of the central nervous system. It is understood as an autoimmune disease, a condition where the body’s immune system mistakenly attacks normal tissues. In Multiple Sclerosis, the patient’s own cells & antibodies attack the fatty myelin sheath that protects and insulates nerve fibres in the brain and spinal cord, the two components of the CNS. This ultimately causes damage to the nerve cells and without the insulation the myelin sheath provides, nerve communication is disrupted. Hence, Multiple Sclerosis is characterized by symptoms that reflect central nervous system involvement (Luzzio, 2014).
Where and how this deadly disease originated is unknown, but it was first identified in 1869, by the noted French neurologist Jean-Martin Charcot. ALS is not contagious, but research is still vague on the cause of the disease. Today, there are three recognized forms of ALS: genetic, sporadic, and Guamanian. The genetic form of ALS appears to be inherited or passed down within a family, and about ten percent of ALS patients have a family history of the disease. An abnormal gene has been located in about half these families, but the cause of the remaining half is still unknown. The next, most common form, is sporadic ALS. These patients have no family history of disease, and the cause of their coming down with ALS is a mystery. Finally, is Guamanian ALS, called this because a high percentage of cases occur in the Pacific Islands near Guam.
After graduating as a registered nurse (RN), I wish to work as a Neurosurgical nurse practitioner for the public healthcare facilities. A Neurological nurse practitioner is a professional and an experienced registered nurse with the education of Master Degree Level or even Doctorate level (Ph.D.). A Neurosurgical nurse practitioner is required to have detailed knowledge of neurology with experience in neurological condition and treatments. However, the purpose of Neurosurgical Nurse Practitioner is to fill in the gaps between the surgeon and the patients. Building a healthy relationship and communicating with patients as a member of a team is the essential and eternal part of the job. A neurosurgical NP's must be able to make a decision and assessment quickly to follow the course of action
Therefore, NFS is inherited as an “autosomal recessive trait” which means that there are 2 copies of the mutation, which are required to produce a positive offspring.
The children that are affected by this disability have delayed development of speech and language, along with serious intellectual disability. With FXS come various amounts of other issues for children and adults, which include, difficulty-paying attention, which can lead to attention deficit disorder (ADD), showing features of the autism spectrum and possibly having reoccurring seizures (Bagni, Tassone, Neri & Hagerman 2012). FXS is caused by mutations in the FMR1 gene, which is located on the X chromosome, therefore causing a malfunction in expressing the fragile X mental retardation protein that is vital in normal neural development (Bagni et al., 2012). “FXS is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders” (Bagni et al. 2012...
The most common type is Peripheral Neuropathy. It is also referred to as distal symmetric neuropathy or sensorimotor neuropathy. In this type, the legs, feet, toes, arms, and hands experience pain and loss of sensation. Typically, the lower extremities are involved before the upper extremities and a loss of reflexes is common. It is with this type of neuropathy that ulcers, wounds, infections, and in severe cases, amputations are most common (Dyck, Feldmen, & Vinick).
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:
Most people do not know what a pediatric neurosurgeon is, but when you explain what it is, and then they realize what it is. Ever Since I first saw the movie “Gifted Hands” about Ben Carson’s journey in his life and how much hard work and dedication it took him to become the successful pediatric neurosurgeon he is. I picked this career to write about because I want to be able to save small the lives of small children with neuro issues. I want to be the reasons that conjoined twins end up living in the end. Ben Carson is my inspiration, I want to be as good of a pediatric neurosurgeon as he is.
1 in every 5600 males have muscular dystrophy. Though the disease is most commonly found in males, females are equally likely to get the genetic abnormality.
Have you ever met someone or had a family member that suffered from a stroke? A stroke is where the person suffers from a loss of blood to the brain cells or suffers a blockage in the blood vessels to the brain. This loss of blood to the brain results in the loss of brain function. People that suffer from a stroke usually have paralysis on one side of the body. The paralysis will affect the opposite side of the body comparative to the proportion of the brain which suffered the blood loss. The paralysis effects how the patient can ambulate and function with daily living, which can be challenging for the patient. Nursing care is important for a stroke patient. Every person is effected differently by a stroke, which is why the nursing care is
This week I thought I would write a little bit about the origin of TwitchyNinja as my online persona. This story goes way back, so buckle up for a long ride. I’ll try to keep it short and this may end up being a two part story just for the sake of not boring you guys to death. Now, without further ado let us jump right in.
Multiple sclerosis is an autoimmune disease that involves the different areas of the central nervous system, CNS- the brain and spinal cord (Dangond). Within the central nervous system there are cells that are covered with a protective myelin. In people with MS, the myelin sheaths around the cells begin to deteriorate and the nerve fibers, also known as axons, which are normally protected by the myelin, end up being destroyed (Boroch). After a while scar tissue is replaced where the myelin breaks down, hence the name multiple sclerosis or many scars (Boroch).When the nerve fibers are destroyed they begin to lose their ability to conduct signals and communicate with the other neighboring nerve cells. Without this ability, the nerve cells that make up the central nervous system cannot communicate with the rest of the body (Blackstone). The loss or slow down of these signals impairs such functions like vision, strength, and coordination. Scientists don’t clearly know what causes the damage to the nerve cells, but they believe that it might be caused by confusion in an individua...