• Duchenne Mascular Dystrophy (DMD): Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705
Evaluation of the case: What is stroke? The formation of a clot in the arteries leading to or within the brain causing an interruption to the flow of blood to a specific area of the brain. (National Stroke Association, 2014) Symptoms of a stroke: Weakness or a complete loss of sensation to a body part Dizziness, loss of balance & coordination and difficulty sitting, standing and walking. (National Stroke Association, 2014) Age & gender risk factors - 55-year-old woman The risk of having a stroke
Olivopontocerebellar Atrophy Olivopontocerebellar atrophy (OPCA) was first described in 1900 by Dejerine and Thomas. OPCA is a group of dominant inheritance and sporadic neurological disorders characterized by a chronic, progressive, cerebellar ataxia that begins in middle age. The cerebellum and its connections are the primary sites of the disease in chronic progressive disorders that often occur in familial or hereditary patterns. Postmortem studies indicate an atrophy of the cerebellum, pons
Paul Anderson and Sara Konrath write that “the ability to empathize is like a muscle capable of growth, atrophy, disability, and even regeneration…for some people empathy comes easily and naturally; for others, concerted effort is required to stretch our imaginations beyond ourselves” (Anderson and Konrath). For the purpose of this paper I will focus on atrophy and regeneration because they articulate two extremes. The idea that empathy can be regenerated is very intriguing. Since
Atrophy, the gradual decline in effectiveness due to lack of use, is the word that sociologist D. Stanley Eitzen uses to describe the fate of social life in the world today. By saying this, Eitzen argues that social life is slowly disintegrating due to many different factors that lead to a lack of social interaction. Using many different statistics and examples, Eitzen makes a convincing case proving that this conclusion is correct and the atrophy of social life is a legitimate problem that the world
Background and aim : Skeletal muscle is reduced in various chronic disease states resulting in sarcopenia. Sarcopenia is an objective and measurable clinical marker for malnutrition. Slice-O- Matic has been used to measure skeletal muscle from computed tomography (CT) images. However, it is expensive and not easily available. In this study, we measure skeletal muscle mass from CT images using Adobe Photoshop and compare it to Slice-O-Matic in order to realiably validate a novel and more cost-effective
What is Spinal Muscular Atrophy? Spinal Muscular Atrophy is a disease that can destroy the “lower motor neurons in the nerve cells” (Spinal Muscular Atrophy, 2015). Spinal Muscular Atrophy affects the spinal cord that controls our everyday movement. These cells send out processes in the peripheral nerve to eventually make contact to our muscle, legs, arms, chest, breathing muscles. SMA is a very rare disease but it is the second most common recessive disease after cystic fibrosis. It is a very serious
granted how truly blessed we are. Even the simple task of walking or even standing may seem like moving mountains to the children who suffer from Spinal Muscular Atrophy (SMA). Some go their whole lives without knowing what it is like to even crawl. SMA is the number one genetic killer in infants under two (What is Spinal Muscular Atrophy?) it affects people for the rest of their life and the disease is devastating, so why is it taking a backseat to other infant diseases such as SIDS? SMA is a genetic
Optic Nerve Atrophy and Judo Athletes For athletes with disabilities, there is an ever-increasing pool of sports available in which they can compete. From wheelchair basketball to murder ball, the options are expanding and many have already become Paralympic sports. One of the most fascinating Paralympic sports is judo, a martial art that derives its origins from Jujutsu (“What is Judo and Kodokan,” 2014). According to the article “What is Judo and Kodokan” (2014) Judo was created by Professor Jigoro
Spinal Muscular Atrophy, also known as “SMA” is a genetic and also a motor neuron disease that affects the area of the nervous system that controls your voluntary muscle movements such as walking, crawling, and swallowing. When someone acquires this condition their muscles start to shrink as a cause to the muscles not receiving signals from the nerve cells in the spine that control function. Spinal Muscular Atrophy is a rare but serious condition. Spinal Muscular Atrophy affects about 8 out of
This essay will discuss the form of Alzheimer’s dementia Posterior Cortical Atrophy, from the aspects of the journey by Sir Terry Pratchett. In addition the essay will discuss symptoms of the disease, pathology, and anatomical structures and locations. Sir Terry Pratchett (Pratchett, 2013) has opened a discussion about dementia due to his diagnosis of Posterior Cortical Atrophy (PCA). PCA is a type of condition associated with Alzheimer’s disease (AD) that affects the parietal and occipital lobes
In the poems "Hawk Roosting" written by Ted Hughes and "Golden Retrievals" written by Mark Doty, both poets compose their poems as speakers "talking" (thinking) through animals' point of views. Although both poems are written through an animal's eyes, both take on the world from very different views through their complex characterization of an egotistical hawk to a lighthearted golden retriever. Hughes and Doty portray their animals in a way that makes it seem like they feel that they're superior
paper will focus on the connection between AN and cardiovascular rhythm disturbances. Individuals with this disorder have an increased chance of sudden death due to cardiovascular abnormalities like bradycardia, myocardial modification including atrophy and refeeding syndrome. (Casiero & Frishman, 2006) Individuals with AN keep their body in a state of starvation. Their body must function without the sustenance that it needs to continue functioning. Bradycardia is the most common heart arrhythmia
and safety”. These compounds can be used in treating many rare genetic diseases like Muscular Dystrophy, Spinal Muscular Atrophy, Huntington’s disease, Parkinson’s disease etc. that require much targeted approach. The application of Anti-Sense therapy for Spinal Muscular Atrophy and Huntington’s disease will be
of studying to be done on the effects of microgravity on the human body and how to counteract these effects. One major concern of prolonged exposure to microgravity is muscular atrophy. Muscular atrophy is the condition of losing the proteins that make up muscle cells, leading to degradation of muscles (“Muscle Atrophy” 1). This loss of muscle cells happen when muscles are not used,
similarly what makes us fail. Such works commonly contain the theme of spiritual or social atrophy, and because the Industrial Revolution was in full swing at the time, these works often address the modern human break with the natural world. The question posed is this: Have we as humans sold out, and can we be saved from our own destruction? Works by Mary Shelley, William Wordsworth and Lord Byron demonstrate the atrophy of humanity, but all three works present a solution for redemption. Lord Byron's
unit to wear to prevent deterioration of the skeletomuscular system? Microgravity simply refer to the loss of gravity which can either be in space or stimulated space. The musculoskeletal system is particularly affected during this condition. Muscle atrophy results primarily from decreased protein synthesis (Hu et al., 2014). Thus while in space there could be a reduction of protein synthesis for up to 50% within several hours which can lead to loss of muscle protein (Fitts et al., 2001). Microgravity
low strain tissue adaptation models. Low stress/activity associated with immobilization results in decreases in contractile protein, fiber diameter, peak tension and power. Evidence supports the idea that tissues within the musculoskeletal system atrophy and become less tolerant of physical stress if stress on the tissue diminishes below a baseline level.3 In addition,
heart can be extremely dangerous resulting in long term cardiac problems, or worse, chronic heart failure. Lastly one of the common male effect is testicular atrophy. Testicular atrophy is a medical condition in which the testicles located in the sack, also known as the scrotum diminish in size. In a result of using steroids, testicular atrophy occurs when there has been a decreased level of luteinizing hormone, in which it is produced inside the male anatomy by the pituitary gland.
Dan Evans Lindenwood University Genetics November 25, 2012 Introduction 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