Physical activity is key in slowing the progressive nature of the disease since inactivity will encourage quicker deterioration of the muscle tissue. Beyond the individual maintaining an effort of physical activity, various treatments, such as physical therapy, speech therapy, respiratory therapy, and the use of wheelchairs, canes, walkers, or braces may be needed. Orthopedic surgery to correct damage done to the bones due to the deterioration of the muscle tissue can be performed, though it is usually a temporary improvement. Also, there are drug therapies that include the use of corticosteroids that help control the deterioration of the muscles as well. Of course, there are also drugs to treat the symptoms of later stages of the disease such as seizures and muscle spasms as well as to treat any respiratory infections that often occur due to the collection of fluid in the lungs. Pacemakers and ventilators are sometimes necessary…...
mlaWorks Cited
Enerson, Ole Daniel. "Guillaume Benjamin Amand Duchenne de Boulogne." Who Named It. Aug. 2006.http://www.whonamedit.com/doctor.cfm/950.html.1
NINDS Muscular Dystrophy Information Page." National Institute of Neurological
Disorders and Stroke. 25 May 2006. 1 Aug. 2006. http://www.ninds.nih.gov/disorders/md/md.htm .
Emery, Allan. Muscular Dystrophy: The Facts. Oxford: Oxford UP, 2000.
Muscular Dystrophy. The writer explores the types, the causes, the symptoms and the research to find a cure. There were six sources used to complete this paper.
One would be hard pressed to find an American who has never witnessed the Jerry Lewis telethon for Muscular Dystrophy. It is an annual Labor Day tradition and has been for many decades. While everybody is aware that Lewis does the telethon and have watched it at least once, they would have a difficult time reporting on the disease the telethon aims to cure. Muscular Dystrophy is a disorder that afflicts millions of people in the world but in laymen language it seems to get confused with other disorders frequently.
The word dystrophy means faulty nutrition and comes from Greek and Latin roots. When the word is combined with muscular it is easily understood as muscles not being given the proper nutrients to function.…...
mlaReferences
MAJOR CHARACTERISTICS OF THE NINE (9) MUSCULAR DYSTROPHIES
http://www.mdausa.org/publications/fa-md-9.html
MOST FREQUENTLY ASKED QUESTIONS ABOUT MUSCULAR DYSTROPHY
Another alternative strategy to gene therapy is exon skipping which differs from gene therapy in that it focuses on the gene transcript rather than the gene itself (McClorey et al., 2005). Exon skipping prevents the transcription of the exon containing the mutation. Exon skipping is a process by which synthetic DNA molecules, antisense, are utilized to create a bridge by which the dysfunctional parts of the gene can be skipped over (Partridge, 2010). This intervention has been found to be particularly useful when treating Duchenne MD in laboratory animals and experts are hoping that this will correlate to human subjects as well.
Cell therapy has also shown promise in the treatment of MD. In this approach cells can be taken either from a donor that has healthy formations of the mutated gene or by utilizing repaired cells of the individual with MD (Cossu and Sampaolesi, 2004). The use of the individuals…...
mlaReferences
Chamberlain, J.S. 2002. Gene therapy of muscular dystrophy. Human Molecular Genetics, 11(20), pp. 2355-62.
Clemens, P.R. And Duncan, F.J. 2001. Progress in gene therapy for Duchenne muscular dystrophy. Current Neurology and Neuroscience Reports, 1, pp. 89-96.
Cossu, G. And Sampaolesi, M. 2004. New therapies for muscular dystrophy: cautious optimism. TRENDS in Molecular Medicine, 10(10), pp. 516-20.
Cossu, G. And Sampaolesi, M. 2007. New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials. TRENDS in Molescular Medicine, 13(12), pp. 520-26.
Muscular dystrophy and myasthenia gravis are complicated conditions. According to the research, muscular dystrophy is a "group of familial disorders that cause degeneration of skeletal muscle fibers" (Carroll, 2008, p 1633). Many researchers believe that the different types are each caused by different biochemical defects. For example, Duchenne Muscular Dystrophy is thought t be the result of a single gene defect "thought to be caused by a deletion of a segment of deoxyribonucleic acid" (Carroll, 2008, p 1633). Similarly, Becker Muscular Dystrophy is also caused by deformities in the X-link. Different types of dystrophy affect different muscle groups. There is the example of scapuloperneal Muscular Dystrophy, which affects the facial and shoulder muscles. Myasthenia gravis is an autoimmune neuromuscular condition, caused by abnormal transmission of nerve impulses to the affected muscle groups. Normal communication is interrupted, where antibodies disrupt the flow of acetylcholine between nerves and muscles. It is also…...
The success was remarkable, according to the researchers: Even muscles that had already lost half of its mass, recovered visible. (Leppanen et al. p5549-65) At the same time, the mice survived for several weeks longer than their untreated counterparts and also developed a healthy appetite again. (Mantovani, p296) The new study is therefore interesting in two respects: First, it demonstrates that the muscle loss at least in animal models in fact, affects the chances of survival, and secondly, it shows a way, may be how to prevent this degradation, and even reversed. (Bruera et al. p857)
Muscle atrophy
Muscle atrophy is a medical term that refers to the decrease in the size of skeletal muscle, losing muscle strength because of the strength of muscle is related to its mass. (Burnfoot, p323-34)
All changes in cell morphological character may affect isolated cells or groups of them, therefore the modification of a whole tissue. (Bhattacharyya…...
During the gene decoding process the double stranded DNA splits up to reveal a single strand from which the base sequence of the gene is copied onto a single stranded nucleic acid known as the messenger ribonucleic acid or mRNA. This implies that we have an exact copy of the gene base in the mRNA except that Urasil (U) replaces the T. base and deoxyribose is replaced by ribose. Translation on the other hand is the actual process of protein synthesis from the mRNA strands. Ribosomes work with the mRNA for protein synthesis within the cells. [the State University of New York]
4) Mutation, Gene Migration, Genetic Drift, Non-random Mating and Natural Selection are the five processes that can affect the frequency of genes in a population. [CMGS]
5) Kindom Protista is considered to be the ancestor of all eukaryotic kingdoms and includes algae, plant like, animal like and fungus like…...
mlaBibliography
Cherie Dimaline, "Inheriting Sickness When Finding Your Roots is a Matter of Life or Death" Accessed on 15th December 2004, http://www.metisnation.org/metisVOYAGEUR/MVcurrent/disease.html
Dr. Joseph F. Smith, "Genetic Counseling," Accessed on 15th December 2004, http://www.chclibrary.org/micromed/00049280.html
IBAC, "The Basics of Life," Accessed on 15th December 2004, http://www.ibac.org.nz/booklet/basics.html
CMGS, "Disturbance of Gene Frequencies in a Population," Accessed on 15th December 2004 http://www.ich.ucl.ac.uk/cmgs/genefreq.htm
" (Stone, 2006) Treatment is stated by Stone (2006) to be "diagnosis dependent and may be medical or surgical." Practical modifications include simple steps such as crushing of pills or opening of capsules to ease and facilitate swallowing.
The work of Leibovitz, et al. (2007) entitled: 'Dehydration Among Long-Term Care Elderly Patients with Oropharyngeal Dysphagia" states that long-term care (LTC) residents in the nursing home "especially the orally fed with dysphagia are prone to dehydration. The clinical consequences of dehydration are critical. The validity of the common laboratory parameters of hydration status is far from being absolute, especially so in the elderly." (Leibovitz, et al., 2007) it is related however that "combinations of these indices are more reliable." (Leibovitz, et al., 2007) the study reported by Leibovitz et al. is one that assessed hydration status among elderly LTC residents with oropharyngeal dysphagia and in which a total of 28 orally fed…...
mlaBibliography
Spieker, Michael R. (2000) Evaluating Dysphagia. American Family Physician 14 Jun 2000. Online available at http://www.aafp.org/afp/20000615/3639.html
Marik, Paul E. And Kaplan, Danielle (2003) Aspiration Pneumonia and Dysphagia in the Elderly. Chest. July 2003. Vol. 1224, No. 1. Online available at http://www.chestjournal.org/content/124/1/328.full
Bautmans, I., et al. (2008) Dysphagia in elderly nursing home residents with severe cognitive impairment can be attenuated by cervical spine mobilization. J. Rehabil Med. 2008 Oct;40(9):755-60. PubMed Online available at http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=18843429
Stone, Rebecca S. (2006) Dysphagia in the Elderly. Inpatient Times. October 2006. Online available at http://www.bmc.org/geriatrics/RStone_DysphagiaintheElderly.pdf
S. Congress that the prospects of stem cell research were so vast that it could touch all the realm of medicine (Connor 2000). An unlimited source of embryonic stem cells will solve the problem of shortage of transplants. Embryonic stem cells will save lives by curing generative diseases of the brain, hepatitis, diabetes, leukemia, rheumatoid arthritis, muscular dystrophy and cystic fibrosis and diseases of the heart and kidneys. ut current laws restrict the use of stems cells on embryos less than 14 days old and for correcting fertility, reproduction or congenital disorders. The restriction is grounded in the belief that the embryo is a potential human being from the moment of conception. It thus possesses a soul and a dignity just like any other viable person (Connor). Previous scientific research presented evidence that genetically engineering cells could partly repair a defective immune system (Travis 2002). Two new studies bolstered this…...
mlaBibliography
Bauer, D.G. (2005). Review of the endocrine system. MedSurg Nursing: Jannetti Publications, Inc.
Connor, S. (2000). Science: the miracle cure with a catch. The London Independent: Newspaper Publishing PLC
Degen. D (2008). Body organization and homeostasis. 1 page. Bones, Muscles and Skin. Pearson Education, Inc.: Pearson Prentice Hall
Farabee, M.J. (2006). Animal organ systems and homeostasis. 18 web pages. Estrella Mountain Community College. Retrieved on February 1, 2006 at http://www.emc.maricopa.edu/faculty/farabee/biobk/BioBookMUSSKEL.html
Another concern is the lengthiness of the survey -- 35 items -- that may have fatigued some of the respondents and may have resulted in rushed and insufficient care in answering the questions.
Furthermore, attributions may have been incorrectly placed. The participant, too, may have erred due to subjective bias (i.e. A 'falling out' with the principal may have led her to incorrectly accusing administrator of reluctance to integrate); furthermore, few teachers would readily admit to negative attitudes in integrating children, teachers may over-rate or under-rate their abilities (as, for instance, with the question: "I find that my knowledge about teaching pupils with physical disabilities in PE class is satisfactory"), and teachers may have deliberately or unwittingly deviated in order to protect their identity and their identity of the school.
Finally, although the survey was built on earlier studies of inclusion, it would be interesting to know amongst which population these surveys…...
mlaReferences
Jerlinder, K., Danermark, B., & Gil, P. (2010). Swedish primary-school teachers' attitudes to inclusion - the case of PE and pupils with physical disabilities, European Journal of Special Needs Education, 25, 45 -- 57
Pruitt, D. (2000). Your adolescent: Emotional, behavioral, and cognitive development from early adolescence through the teen years. Washington, DC: American Academy of Child and Adolescent Psychiatry.
Spencer-Cavaliere, N. & Watkinson, E.J. (2010). Inclusion Understood From the Perspectives of Children With Disability, Adapted Physical Activity Quarterly, 27, 275-293
The United Nations Children's Fund (UNICEF) (2007). Promoting the Rights of Children with Disabilities Innocenti Digest No. 13
Grants for science education are provided to schools and individuals, with the objective of helping to inspire careers in science. ("About HHMI," 2010) When you put these different elements tougher, this shows how HHMI is involved in medical research funding from: working directly with researchers to providing funding on a host of projects and initiatives. This is important, because it allows the nonprofit to fund a number of different research studies, while giving scientists the flexibility to effectively conduct their projects. As a result, this has helped HHMI to support a number of different medical breakthroughs to include: making significant progress in spinal cord injuries, HIV / AIDS research and medication that can be used to effectively treat leukemia. At the same time, the organization is focused on identifying the genes that are responsible for: cystic fibrosis, colon cancer and muscular dystrophy. (Leung, 2004)
The Impact of how HHMI's: Mission,…...
mlaBibliography
About HHMI. (2010). HHMI. Retrieved from: http://www.hhmi.org/about/
Developing New Knowledge. (2010). HHMI. Retrieved from:
This is significant, because it shows how the funding and research provided by HHMI is establishing, scientific breakthroughs that are having a profound impact on the lives of millions of people. Evidence of this can seen with the fact that institute is funding 330 investigators in the United States alone (to include seven Nobel Prize winners). At the same time, they are funding research projects in a number of countries around the world such as: the former Soviet Union and South Africa just to name a few. This is important, because it shows how the fortune of Howard Hughes is being used, to benefit millions of people (who are seeking cures for a variety of diseases). (Leung, 2004)
Discuss some of the benefits and pitfalls of planning?
The benefits of planning are: you can be able to identify changes coming early and it helps you to have more flexibility. These two…...
mlaBibliography
Developing New Knowledge. (2010). HHMI. Retrieved from: http://www.hhmi.org/about/ origins.html
Leung, R. (2004). Howard Hughes. CBS News. Retrieved from: http://www.cbsnews.com/stories/2003/11/21/60minutes/main584945.shtml
In such situations, "especially if the comments have been made repeatedly" the employer may not be able to fire the employee at will. This seems to be the case with Joe, given the statements he received from his supervisors (Nolo, 2010). In the future, it would be wise for the Strong Steel Company to be careful about making such sweeping statements to employees, to protect the company's interests should the employee use such statements as evidence that they could only be fired with a 'cause.'
Even if the employer argues that there was no implied contract about his employment status, Joe's firing seems clearly linked to his ADA-qualified disability, given that he was told, after he returned to his employment after his operation that his employer felt that Joe was not doing a good job because of his heart problems. Joe, however, had only taken part-time leave for a relatively…...
mlaReferences
The Americans with Disabilities Act: Title II Technical Assistance Manual. (2010). Americans
with Disability Act. Retrieved February 7, 2010 at http://www.ada.gov/taman2.html
Employment at will: What does it mean? (2010). Nolo. Retrieved February 7, 2010 at http://www.nolo.com/legal-encyclopedia/article-30022.html
Facts about age discrimination. (2010). Equal opportunity Commission (EEOC).
As a result, children and adolescents are at risk of delays and impairments in cognitive development" (Levy 2009). Such delays are far from inevitable, but they do underline the need to assure that Sarah 'keeps up' with her studies and that reasonable peer-appropriate learning goals may need to be met with the assistance of additional support in some instances.
Although not directly applicable to Sarah, immunizations with live viruses, including chickenpox, MMR (measles, mumps, rubella), and oral polio vaccines are not advised for children with lupus (Lupus, 2009, Children's Hospital of Boston). Sarah's parents may need to watch for is the possibility of symptoms in her sibling: "a form of lupus may occur at some point in about one out of twenty people whose siblings have lupus" and they may need to take this into consideration when contemplating a vaccination program if they ever have another child (Lehman 2002). Sarah's…...
mlaWorks Cited
Lehman, Thomas J.A. (2002, Fall). Early diagnosis of SLE in childhood. Lupus News.
22.3. Retrieved June 29, 2009 at http://www.lupus.org/education/topics/early.html
Levy, Deborah, Stacy P. Ardoin, Laura E. Schanberg (2009). Neurocognitive
impairment in children and adolescents with SLE: Cognitive development in healthy children and adolescents. Nat Clin Pract Rheumatol CME. 5(2)
The viruses that cause AIDS (HIV) and hepatitis can be carried in clotting factors however there have been no documented cases of such transmission in about ten years. Prevention of viruses can be prevented by: careful screening of donors; testing of donated blood products; treating donated blood products with a detergent and heat to destroy viruses (Hemophilia 2006). Both preventive and as-needed therapy can be administered at home, thus resulting in quicker treatment, fewer doctor or emergency room visits, and less costs. Vein access devices can be surgically implanted to allow easier access to a vein however infections can result from such devices (Hemophilia 2006).
All patients with bleeding disorders may benefit at times from using aminocaproic acid, an oral antifibrinolytic medication that helps stabilize clots (Curry 2004). Aminocaproic acid is the only product available in the United States in oral form, however it is not user-friendly, with dosing every…...
mlaWorks Cited
Anderson, Gaylene. (2006 October 06). Promising Non-Viral Alternative for Gene Therapy
Involves 'Jumping Gene' From a Moth. Ascribe Higher Education News Service. Retrieved December 20, 2006 from HighBeam Research Library.
Bayer Grant Promotes Groundbreaking Hemophilia Research and Education; Bayer Hemophilia
Awards Program Continues to Be a Critical Source of Funding for Hemophilia Research and Education. (2006 May 23). Business Wire. Retrieved December 20, 2006 from HighBeam Research Library.
Particularly, the risks of diverse neoplasms have been seen to be raised in Turner Syndrome is quite low quantum, however, except for gut cancer and gonaboblastoma in patients having occult Y chromosome sequences. (Cabanas; Garcia-Caballero; Barreiro; Castro-Feijoo; Gallego; Arevalo; Canete; Pombo, 2005)
Additionally, there appear to have no prior indication of the relationship between the Turner Syndrome and papillary thyroid carcinoma, irrespective of the fact that there has been one report of an anaplastic thyroid carcinoma in a TS patient in association with Hashimoto's thyroiditis. Several epidemiological studies and studies relating to exhaustive long-term monitoring of GH-associated patients have been seen to have benefited therapeutically from GH treatment and found to be safe having no detectable effect on risk of cancer. But the current studies have shown a probable relationship between GH-IGF axis and the pathogenesis of neoplasms. The study on papillary thyroid carcinoma after GH therapy for Turner Syndrome…...
mlaReferences
Cabanas, P; Garcia-Caballero, T; Barreiro, J; Castro-Feijoo, L; Gallego, R; Arevalo, T;
Canete; R; Pombo, M. (2005) "Papillary thyroid carcinoma after recombinant GH therapy for Turner syndrome" European Journal of Endocrinology. Vol: 153; No: 4; pp: 499-502
Dowshen, Steven. (2005) "Turner Syndrome" Retrieved at Accessed 8 November, 2006http://www.kidshealth.org/teen/diseases_conditions/genetic/turner.html .
Gordon, John D; Lebovic, Dan I; Taylor, Robert N. (2005) "Reproductive Endocrinology and Infertility: Handbook for Clinicians" Scrub Hill Press, Inc.
Key Features of Limb-Girdle Muscular Dystrophy (LGMD)
Definition:
Limb-girdle muscular dystrophy (LGMD) is a group of inherited genetic disorders characterized by progressive muscle weakness and wasting primarily affecting the muscles surrounding the shoulders and hips (limb-girdle).
Classification:
LGMD is classified into several subtypes based on the affected gene and pattern of muscle involvement. Common subtypes include:
LGMD1: Mutations in the sarcoglycan gene complex
LGMD2: Mutations in the dysferlin gene
LGMD3: Mutations in the calpain-3 gene
LGMD4: Mutations in the FKRP gene
Symptoms:
Muscle weakness: Primarily affects the muscles proximal to the limbs, such as the shoulders, hips, thighs, and upper arms.
Muscle wasting: Loss of....
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