Neurofibromatosis(NF) is describe as a nervous system disorder that can affect many different organs in the body; which generally includes the (skin, nerves, brain and spinal cord) as a result of tumor growth on the nerve tissues. This disorder can pass on from parent to child if one of the parents is a carrier for the defected gene or it can develop from a change (mutation) in the “genetic material of the sperm or egg at the conception in families with no previous history of NF.” (Bartoshesky, 2011) There are three types of neurofibromatosis: neurofibromatosis type 1(NF1) also known as Von Recklinghausen, neurofibromatosis type2 (NF2), and Schwannomatosis. Diagnosed of the disease normally depend on specific symptoms, people with NF can …show more content…
According to Medical News Today the inherited gene that causes NF1 can be found on chromosome 17 on the DNA (deoxyribonucleic acid) strands. Individual with NF normally develop brown spots (café au lait) at birth or during early childhood but, for a diagnosis more than six spots must be present. Or two of the following symptoms: soft tumors (neurofibromas) on the skin or under the skin, bone abnormalities, bowed legs or curving of the spine, vision problem, speech and learning disabilities, oversized head in children, freckles in the groin or armpit, and other skin folds.(Hsieh, 2015). Diagnose may also include x-rays, CT(computed tomography) scan, MRI(magnetic Resonance Imaging) scan of the brain or spine to detect tumors and blood test for genetic …show more content…
This disorder is the rarest of the three according to Medical News Today only 15% of the people who inherited neurofibromatosis have this type and some estimated 1 in 40,000 people get it. Schwannomatosis can cause intense pain anywhere in the body as a result of tumors (called schwannomas) that can develop on the cranial, spinal and peripheral nerves. For some people that’s there only symptom. (Mayo Clinic, 2013) Like NF1 and NF2 symptoms and severity varies from person to person. Beside pain, some people may develop tingling, numbness, weakness in the fingers and toes.(Ninds. Nih, 2015) Unlike NF2 people with this type do not develop tumors in the inner ears and do not go deaf. This disease usually affected people in the late stage of life but, prior to late 20s or 30s. (Mayo clinic, 2013) According to (NF Midwest) schwannomatosis was recently recognized that the reason why there is very little information to the causes and treatment for the disorder. Researcher have identified the disorder with” mutation of the SMARCB1 gene located on chromosome 22;” as one of the genes that can cause schwannomatosis. Therefore, it may be inherited or cause by gene mutation. (Mayo Clinic, 2013) As far as diagnosis, genetic testing is done on individual that might have this type of NF and also, if “two or more schwannomas with at least one that has been shown to be a schwannoma on a pathology report.”(nfmidwest, 2012) Treatment
Margaret Cho is political because she feels that minorities like her are discriminated against as having “invisibility” in a society that gears primarily toward Caucasian men (141). In her youth, Cho tried to remain apolitical as she thought that staying away from her North Korean ancestry would help her to become more American. However, she found quickly that this system made her feel insecure about her skin color and became racist herself. These racist ideals caused her to think of how she lived, how she felt, and how others saw her. Now, she is fighting with her own “self-hatred” of being North Korean to try and become a prominent figure in the political humor industry (143). She believes that as a political
This disease affects the nerve cells by enabling them to send electric impulses to the muscles which ultimately makes the muscle wither away and stop working. The nerves targeted are actually
Fibrodysplasia ossificans progressiva also known as FOP is a one of the rarest, most disabling genetic bone conditions known to medicine. FOP causes muscles, tendons, ligaments, and other connective tissues to turn in to bone. Movement becomes limited in the affected areas of the body. People with FOP typically have malformed toes at birth, meaning the big toe is typically shorter than normal and abnormally turned outward in a position called a valgus deviation. Symptoms of FOP start to show up in early childhood. Most people with FOP develop painful tumor-like swellings also known as fibrous nodules. The fibrous nodules are visible on the neck, shoulders, and back.
The great majority of all cases of Alexander Disease (infantile, juvenile and adult) are caused by a defect in a specific gene called GFAP, which stands for Glial Fibrillary Acidic Protein. GFAP is an intermediate filament protein
A defective gene can be inherited by a parent or suddenly change for no reason. Neurofibromatosis type 1’s defective gene can be found on chromosome number 17. Neurofibromatosis type 2’s defective gene can be found on chromosome number 22. Type 1 neurofibromatosis occurs in about 1 in 2,500 to 3,000 individuals in the population (Haynes,2011). Birthmarks, freckles, and skin lumps are the main sign of neurofibromatosis, but if an individual has two or more signs a diagnosis will be made. If a physician suspects Neurofibromatosis type 2 they will refer the patient to a specialist for test. A diagnosis can be made for Neurofibromatosis type 2 if there is an acoustic neuroma in one ear and other symptoms, a CT scan or MRI, and a blood sample. Family history is also a factor in the
One of them are non cancerous tumors under the skin, or they may be located deeper within the body. There can also be tiny bumps in the iris of your eye, the iris is the colored part of the eye. Impaired thinking skills are common in kids with NF1. Short stature, this means children with NF1 are below average height.
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves, and skin. There have been two types of neurofibromatosis classified. Type one is more common and is formerly known as von Recklinghausen's neurofibromatosis. Symptoms for type one include: café-au-lait, two or more neurofibromas,manifestation of freckles, lisch nodules, optic glioma, scoliosis, or enlargement or malformation of other bones in the skeletal system. Café-au-lait is the presence of light brown spots on the skin. Neurofibromas are pea-sized bumps that grow on nerve tissue or under the skin. Lisch nodules are tiny tan clumps of pigment in the iris of the eyes. Optic glioma are tumors that are along the optic nerve of the eye. Scoliosis is the severe curvature of the spine.
NF is diagnosed by a doctor shining a lamp on your skin to look for cafe au lait spots. Also genetic history can determine if a person has NF or does not. NF can be treated by annual eye examinations, annual checkups, and surgery to remove toumbers, chemotherapy, and finally radiation
Schwannoma also called as neurilemmoma was first described by Verocay in 1908 [1,2].It is a slow growing benign tumor arising from the schwann cells of nerve sheath.It is solitary and encapsulated tumor which can arise from any nerve with two notable exceptions the optic and olfactory nerves both of which lack Schwann cell encasement hence are not involved [3]. Approximately 25–45% of all schwannomas occur in the head and neck region [4].Most commonly affected nerve by schwannoma is the vestibulocochlear (VIII) nerve (acoustic neurinomas) [2,,5 ,6] .Schwannomas are rarely found perorally (only 1%) with tongue being the most common peroral structure involved [3,7,8].It has no predilection for sex or race and it is usually seen between the third and sixth decades of life[9].Schwannoma tongue
On FGFR-1, the mutation is located on chromosome 8p11.2-p11 and FGFR-2 on chromosome 10q26. On the FGFR-1, the mutation on chromosome 8 is marked by a C to G transversion in exon 5, with a proline to arginine substitution in the extracellular domain. In most cases genotyping has shown variable expressivity or different mutations in the same gene. Studies have shown that that Pfeiffer syndrome has been linked to the advanced paternal age of
have been trying to find the exact cause of this disease and how it can be treated so
Apocalypse Now, directed by Francis Ford Coppola, details army captain Ben Willard’s adventure though the jungle to kill deranged Colonel Walter Kurtz. Heart of Darkness, by Joseph Conrad, is set in the early 1890’s and presents Marlow’s curiosity for Kurtz; he travels through the Congo in search for him and witnesses the perils of imperialism and the effects it has on both the colonizers and the colonized. Although Apocalypse Now and Heart of Darkness are wholly different genres of timeless entertainment, they both present the dominant theme of man’s innate savagery and the ability to descent into madness when subject to the right conditions. Both works heavily emphasize the vulnerability that man has of falling under the spell of darkness.
A Neuromuscular specialty office provides comprehensive care for diseases that could potentially effect or cause damage to the functions of your nerves and muscles. Neuromuscular Physicians and staff are highly skilled when it comes to identifying the diagnosis, even at it’s earliest stages. The most common diseases treated in this specialty include carpal tunnel syndrome, myasthenia gravis, muscular dystrophies, and amyotrophic lateral sclerosis or most commonly know as (ALS). Most Neuromuscular disorders are not curable, but there are treatments to help improve symptoms, and strengthen mobility.
Neurofibromatosis is a genetic disorder which can cause tumors to grow on nerve tissue. The tumors develop in a patient’s brain, spinal cord and pretty much anywhere in the nervous system. There are three types of neurofibromatosis which all have different signs and symptoms. The first, neurofibromatosis 1 shows up with small flat brown spots on the skin, freckling in the arm pit or groin area, bone deformities, tumors on the optic nerve, tiny bumps on the iris of the eye and possible learning disabilities. Neurofibromatosis 2 is not as common as 1 and the symptom is usually slow growth of benign tumors in both ears. These tumors grow on the nerve that carries balance and sound to the brain. Signs are gradual hearing loss, headaches, ringing
In regards to CHD and CVD, statins have been noticed to improve overall patient outcomes by well over 40%. Crestor (Rosuvastatin), is a cholesterol treating medication, which cholesterol, being the most common way LDL (Low density Lipoproteins) to develop, subsequently causing CVD, or furthermore, a Myocardial infarction (STEMI) or Cardiac Arrest. Crestor improves the overall lipid profile in those with high cholesterol and high blood pressure, two precursors to causing fatal heart attacks. Crestor acts as a LDL antagonist, and subsequently increases HDL (High Density Lipoproteins) to increase blood flow through coronary artery lumens and increase overall health of the heart. My recommendation after reading this article is to read the label before use and not to be “drug dependent.” In the study, it was also proved that a placebo that was given PO (orally) to patients showed a dramatic change in there cholesterol levels. In other words, people changed a bunch of things because they thought they were getting better ex., exercise, diet, sleep, work. When those factors changed, so did their overall health. Medications should be used to those who “are in need and have went to internal sources and they may not have worked, so have resorted to external sources, ex., statins). In regards to CHD and CVD it is preventable by