Tay sachs disease research paper. Tay Sachs Disease Research Paper 2022-10-28
Tay sachs disease research paper
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John Steinbeck was a Pulitzer Prize-winning American novelist and writer whose work, "Of Mice and Men," is a classic of literature. Set during the Great Depression, the novella follows two itinerant workers, George and Lennie, as they travel together and dream of one day owning their own farm. Along the way, they encounter various challenges and conflicts, both internal and external, as they struggle to make their way in a harsh and unforgiving world.
One of the most enduring themes of "Of Mice and Men" is the importance of companionship and the need for human connection. Despite their dreams of independence and self-sufficiency, George and Lennie rely on each other for emotional support and motivation. They share a deep bond and friendship that sustains them as they face the many challenges of life on the road. This theme is particularly poignant in the context of the Great Depression, a time when many people were struggling to find their place in a society that seemed increasingly hostile and uncaring.
Another key theme of the novella is the power of dreams and the ways in which they can both inspire and deceive us. George and Lennie's dream of owning their own farm is a source of hope and motivation for them, but it also serves as a reminder of the many obstacles and setbacks they must overcome. In the end, their dream is ultimately shattered, and they are forced to confront the harsh realities of their circumstances.
Despite its themes of loss and disappointment, "Of Mice and Men" is ultimately a hopeful and uplifting story. Through the portrayal of George and Lennie's deep friendship and their shared dreams, Steinbeck shows that even in the darkest of times, it is possible to find meaning and purpose in life. The novella has remained a beloved and enduring work of literature for nearly a century, and its themes of friendship, hope, and the power of the human spirit continue to resonate with readers to this day.
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Children with this condition appear clinically normal at birth but begin to display neurologic abnormalities that worsen over time. Seizure medications should be used, although they may become ineffective later in the course of the disease. Retrieved 10 April 2012. Symptoms that occur later on may include deafness, blindness, a loss of intellectual skills, difficulties eating, a loss of motor skills, and abnormal body tone Weiss, 2010. Avenida Bandeirantes, 3900, Ribeirão Preto, São Paulo, 14048-900, Brazil. The way you live and act can affect the possibility of you developing a disease, that you can prevent by being careful and consider.
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Tay Sachs Disease Research Paper
When fertilization joining of a sperm and egg cell occurs, the diploid number 46 of chromosomes is restored in the zygote which becomes an embryo, fetus and newborn. Between 3 and 6 months of age signs will begin to show in this case. This disease is known to get progressively worse, and unfortunately leads to death. The ganglioside involved in TSD is termed GM2. The remainder of this discussion will concern classic infantile acute TSD, also known as Type I GM2 gangliosidosis Gravel et al. Retrieved 29 May 2017.
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Tay
The content on this site is intended for healthcare professionals. Bernard Sachs, a neurologist, uncovered the first description of the cell changes in Tay- Sachs. In 1969, Shintaro Okada and John S. This disease breaks down the coating of nerve fibers or axons, those are called Myelin Sheath. There are a number of different gene mutations that can cause abnormalities of GM2 degradation. The central nervous system is obliterated as a result Genetics Home Reference, 2012.
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Research papers about tay
There are several clinical disorders associated with mutations of the HEXA gene that are designated as types of TSD. Electromyography EMG shows atrophy of muscle due to loss of innervations. There are multiple treatments for ALS, but no cure for this fatal disease. Emmette 11 March 2014 Tay-Sachs Disease In 1881, Warren Tay was a British ophthalmologist, he was the first to describe an observation he made of a yellowish macular degeneration in an infant who was showing symptoms of central nervous system degeneration, years later two more children from the same family experienced the same thing. Diagnosis The diagnosis of TSD can be strongly suspected based upon ethnic background and the characteristic onset of neurodegeneration at three to five months of age.
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Research :: National Tay
Tay-Sachs is Tay Sachs Disease Imagine that there is a disease that is terrible and causes trouble for you every day, there is no cure, there is only the dragging on of day after day. Orphanet Journal of Rare Diseases. This disease can happen to anyone both men and women any from the ages as early as 10-30 years of age. In the case of Tay-Sachs, it is a mutation of an autosomal chromosome, specifically chromosome 15 ncbi. It is a progressive disease with a prognosis of 3 to 5 years after initial diagnosis. Dysphagia difficulty swallowing , blindness, seizures that are difficult to control, dementia and spasticity ensue. However, this process is limited by the physical size of the enzyme, which appears to be too large to traverse the blood-brain barrier BBB as necessary.
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Nutritional Management In Late Onset Tay
In this form, there is virtually no Hexosaminidase A enzyme activity 0. Such issues are a conspicuous part of the histories of three hereditary diseases: Tay-Sachs, commonly identified with Jewish Americans; cystic fibrosis, often labeled a "Caucasian" disease; and sickle cell disease, widely associated with African Americans. If pregnant or considering it is recommended you and your partner be tested to see if you are carriers for the gene. However, since in infantile Tay—Sachs disease there is no β-hexosaminidase A, the treatment would be ineffective, but for people affected by Late-Onset Tay—Sachs disease, β-hexosaminidase A is present, so the treatment may be effective. The Enzyme TSD is caused by an abnormal accumulation of GM2 ganglioside in the brain and other organs. So, what makes this disease so interesting? As for CVS, throughout the cervix a thin tube is inserted in order to extract a small sample of the placenta for testing.
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Tay
Seattle, Washington, USA: University of Washington, Seattle. There is a pilot trial currently open to pregnant women at risk for having children with fatal metabolic disorders including Tay-Sachs and Sandhoff diseases. Furthermore, tay sachs also takes the lives of innocent children and depresses parents for the rest of their lives. Every normal human has two chromosomes numbered 1 to 22 the autosomes or non-sex chromosomes , plus two sex chromosomes X and Y in a male, X and X in a female , for a total of 46 the diploid number , in all nucleated cells of the body, with the exception of mature sperm and egg cells. Some research has investigated the possibility of administering the HEXA enzyme directly into the cerebrospinal fluid CSF to surpass this issue.
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Tay Sachs Research Paper
Guillain-Barre Syndrome Research Paper 1764 Words 8 Pages Guillain-Barré syndrome GBS is a disorder in which the body 's immune system attacks part of the peripheral nervous system. Treatment There is no specific treatment or cure for TSD. ALS is a progressive nervous system disease where the nerve cells break down impacting bodily functions. Although Lou has the disease named after him, there are several other notable individuals who have been diagnosed with ALS. Since genes are carried on the chromosomes, each parent has a pair of genes for each trait or gene product.
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Tay Sachs Disease Research Papers
This disease has lots of symptoms. These are the risk that a person must be willing to consider when making decisions to be active in sports. The most common form of the disease is classic infantile. Of particular note, research has discovered a certain mutation in the HEXA complimentary deoxyribonucleic acid cDNA of sheep with Tay-Sachs disease, known as G444R, which is a missense mutation. Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent.
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The other thing is getting this news this week I have decided to test my kids one of them grown to see if they are carriers. Biochimica et Biophysica Acta BBA - Molecular Basis of Disease. Retrieved 5 May 2011. The other, found in a non-Jewish man, was characterized by uniformly low levels of HEX A activity in leukocytes, fibroblasts, and serum against artificial substrate. Tay Sachs Disease is an inherited disease that results in slow destruction of the central nervous system and sensory systems, which is caused by a mutation resulting in a deficiency of a lysosomal enzyme. A generalized metabolic disorder". There is also the childhood, adolescence and adulthood Tay Sachs disease which are very rare.
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