...slight speech impediment, she could be suffering from a neuro-muscular disease. There are several neuromuscular diseases such as: Huntington’s disease, Parkinson’s disease or Lou Gehrig’s Disease. To start off, since the patient experiences weakness in the limbs, she could be suffering from a type of muscular dystrophy (MD). There are many kinds of MDs, all of which cause weakness by the degeneration of muscular tissue in the body. Looking at the patient’s age and that she feels weakness in the distal muscles, it can also be hypothesized that she could be suffering from a form of distal myopathy. Most distal myopathies occur at a later stage in life and atrophy happens...
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...Introduction Duchenne muscular dystrophy, named after the neurologist who first described it, Guillaume Benjamin Amand Duchenne in the 1800, is a common type of muscular dystrophy among children, in which the muscle becomes weak and degenerates progressively. Prior to 1986, there was very little information before MDA-supported researchers succeeded in the identification of the particular gene on the X-chromosome that after mutation led to the disease (MDA, 2016). The gene was identified and named as dystrophin. Dystrophin is a protein that aids in keeping the muscles together. Duchenne muscular dystrophy is heritable as an X-linked recessive gene and is passed by the mother who is often referred to as a carrier. The disease majorly affects...
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...linked inheritance. Masanori Funakoshi, Yuichi Tsuchiya, Kiichi Arahata Introduction: The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibres. Case presentation: X- linked Emery-Dreifuss Muscular Dystrophy: The Propositus, 54 years old man , was one of the monozygotic twins .Admitted to hospital because of the chest pain and was found to have atrial arrest , for which a pace maker was inserted . Elbow contractures had been noted and had been toe walking since early childhood. Mild weakness has been noticed around 10 years of age. He had had a cerebral accident with left hemi paresis at age of 31, slows heart rate and had been on anticoagulant since...
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...Duchenne Muscular Dystrophy Duchenne muscular dystrophy (DMD) is a common disorder affecting the muscular system. This form of muscular dystrophy is inherited and is caused by a genetic mutation that affects the dystrophin proteins of the muscles. Dystrophin is the largest gene known to man. (Tennyson, Klamut, Warton 1995). Hundreds of genes are responsible for producing the proteins that protect these muscle fibers from damage. In DMD, the dystrophin gene is defective. Where most forms of muscular dystrophy worsen slowly over time, Duchenne grows worse quite rapidly. Duchenne muscular is linked to the X-chromosome so the mother carries the disease and the defective gene but will likely never show symptoms. Their sons will each have a 50% chance of getting the disease and their daughters will each have a 50% chance of being carriers of the disease (Bushby, Finkel, Birnkrant, Case, Clemens, Cripe, Kaul, Kinnett, McDonald, Pandya, Poysky, Shapiro, Tomezsko, Constantin, 2010). The women who are carriers will pass the gene onto their children. One in every 3,500 live male births are diagnosed with Duchenne muscular dystrophy (Chen, Ma, Zhang, Chen, Xing, Wang, Zhang, Luo, 2014). Most of these diagnoses have a line of family history with Duchenne muscular dystrophy that they were unaware of because it had not shown up in several generations. Females who are diagnosed with Duchenne muscular dystrophy and show symptoms tend to have very mild cases compared to those cases of males...
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...Duchenne Muscular Dystrophy is one of the most common forms of muscular dystrophy, it can be detected genetic studies during pregnancy. Even though the disease may be identified, there is still no way to prevent it. One in every 3,000 children are born with this condition.(Duchenne Muscular Dystrophy Facts and Information (2009-03-01)) Duchenne Muscular Dystrophy (DMD) is a genetic degenerative diseases that affects voluntary muscles and causes intense muscle pain. Other areas such as the brain, throat, heart, diaphragm, stomach, intestines, and spine can also be affected by this disease. Symptoms usually appear in male children before age 6 and may be visible in early infancy. To diagnose DMD, a muscle biopsy can be done to look for abnormal...
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...performance. (Yang, MacArthur, & North, 2003) The amount of muscle growth that develops is under the strickt control of myostatin, a protein created by the gene GDF-8, or the MSTN gene. Myostatin determines exactly how large a muscle can become by inhibiting muscle growth and regulating muscle breakdown. This protein is part of the transforming growth factor beta superfamily, which is a group of proteins that help control the growth and development of tissues throughout the body. (MSTN, 2013) Myostatin is found almost exclusively in skeletal muscles, where it is active both before and after birth. Myostatin reduces protein synthesis and activates muscle protein breakdown, contributing to muscle regulation in two distinctly different ways. Studies have shown that when MSTN is overexpressed, muscle cells have reduced protein synthesis and smaller fibers. Research in healthy individuals showed an increase in human MSTN expression when not using the muscles, as seen with inactivity, bedrest, or spaceflight, and conversely, myostatin protein and its role in limiting muscle mass reduced with heavy resistance training. Myostatin gene expression seems to be higher in young men when compared to women or older individuals, but men also exhibited the greatest reductions following resistance training. As the muscles reach their limits the myostatin steps in to prevent any further growth by breaking down the muscle proteins. Natural mutations and knockouts in animals...
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...Clinical treatments of muscular diseases differ from case to case which includes medication testing that works on alleviating the diseases' symptoms. Myopathies' treatment relies on upon its cause (Gupta, 2014). The objectives of myopathy treatment are to abate the development of the disease and alleviate symptoms. Muscular and inflammatory dystrophies' treatments range from treatments using drugs to bypassing circumstances which makes muscles make a lot of effort for metabolic myopathies. Doctors often advise myopathy patients to lose weight and keep it low; as a lighter body needs less effort from the muscles. Also they advise them to abstain from making the muscles to fatigue. At the point when breathing issues appear, some patients use...
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...Mrs Banner, has been admitted to hospital and assigned to the respiratory ward, with pre-diagnosed and exacerbating symptoms of bronchiectasis. The symptoms of bronchiectasis are also further impaired by Muscular Dystrophy, limiting the patient’s range of mobility and contributing to decreased respiratory function. Within this case study I will firstly identify the pathophysiology of Bronchiectasis and how this leads to an overproduction of sputum. I will also investigate the implications this will be causing both Mrs Banner and other individuals who may come within her contact vicinity. Furthermore, how nursing interventions may provide a safeguard within the domains of infection control, while also improving the patient’s wellbeing. Secondly, how this combination of factors is contributing to shortness of breath, causing accompanying distress to the patient, and as a reliever what nursing resolves can be put into place to ease this discomfort. Lastly, incorporating Muscular Dystrophy as a comorbidity, I will explore how this further exacerbates the symptoms of bronchiectasis. This by virtue, putting the patient’s skin integrity at a greater risk of acquiring pressure sores. Concurrently, preventative nursing assessments that are put in place to avoid such an outcome, will also be discussed....
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...Case Study: RÈJEANNE Roles- Respondent Lawyer Health Concerns What Is Scoliosis? It’s not a disability, it’s a condition making the argument against the city that she is a handicap invalid. Technically she’s not a handicap- If you can no longer work due to scoliosis, you may be eligible to receive Social Security Disability benefits which she did not apply for at the time. Scoliosis is a lateral (toward the side) curvature in the normally straight vertical line of the spine. When viewed from the side, the spine should show a mild roundness in the upper back and shows a degree of swayback (inward curvature) in the lower back. Types of Scoliosis – conditions 1. Neuromuscular scoliosis. A result of abnormal muscles or nerves. Frequently seen in people with other disorders, including other birth defects such as muscular dystrophy, cerebral palsy, Spina bifida or Marfan syndrome (an inherited connective tissue disease) those with various conditions that are accompanied by it, result in, paralysis. : In this type of scoliosis, there is a problem when the bones of the spine are formed. Either the bones of the spine fail to form completely or they fail to separate from each other during fetal development. People with these conditions often develop a long C-shaped curve and have weak muscles that are unable to hold them up straight. If the curve is present at birth, it is called congenital. (Congenital scoliosis caused by a bone abnormality present at birth .This type of scoliosis...
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...taking creatine in supplement form might enhance physical performance. In the 1990s, athletes started to catch on, and creatine became a popular sports supplement. According to studies, 8% of adolescents take creatine. The supplement is particularly popular among high school, college, and professional athletes, especially football and hockey players, wrestlers, and gymnasts. An estimated 40% of college athletes and up to half of professional athletes say they use creatine supplements. Creatine is thought to improve strength, increase lean muscle mass, and help the muscles recover more quickly during exercise. This muscular boost may help athletes achieve bursts of speed and energy, especially during short bouts of high-intensity activities such as weight lifting or sprinting. I will now discuss the 7 most controversial creatine topics 1 Creatine is similar to anabolic steroids. Myth. Steroids mimic testosterone and are banned in the Olympics and in professional sports. By contrast, the International Olympic Committee, professional sports leagues, and the National Collegiate Athletic Association do not prohibit creatine. (The NCAA won’t let colleges give it to athletes, though.) 2 Creatine can help you build muscle mass without hitting the gym. Myth. It shows some improvement in kids with muscular dystrophy, even if they’re not exercising, but...
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...Pathophysiology essay Lung compliance and its disorders Philippe Wöllenstein Study group 3052; Topic No.62 29.04.2015 ------------------------------------------------- Abstract ------------------------------------------------- The essay comprises an introduction explaining the term pulmonary compliance. The next section includes a definition and characteristics of the group of diseases-restrictive pulmonary disorders. Further on a short summary of restrictive lung diseases and especially their cause follows trying to contribute a better knowledge of the topic to the reader. In the end the reader can find a short conclusion. Table of contents General information about lung compliance Restrictive pulmonary diseases intrinsic restrictive lung diseases Extrinsic restrictive lung diseases 1. Neurological disorders 2. Neurodegenerative-autoimmune-inherited disorders III. Conclusion IV. Resources I. General information about lung compliance Compliance is a measure of the elasticity of body tissues. The latter specifies how much gas or liquid can be filled in a closed system until the pressure rises up to one pressure unit. To understand the mechanism of the pulmonary compliance it is important to define the The alveolar pressure first. The latter is the pressure found inside the alveolus at any instant of the respiration. Thus at resting position, without any air flowing in or out of the lung , the pressure found in the alveolus is equal 0cm...
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...This disease is known as colloid pharyngitis. This inflammation occurs because of a bacteria called the womb, which means the first of its name (strepto) it works in the form of pairs or groups. These bacteria can be inflammation of the throat, tonsils and throat in some areas. Acute and muscular effects (larynx) and ulcers lymph nodes. The incidence of sore throat is 15-40% among children [3] [4] and by 5-15% in adults. Streptococcus bacteria are bacteria with the infected person and the infected person is diagnosed by taking a swab of the throat to diagnose the patient, but there is no paint in this case. Often we resort to giving the patient [medical] problems that cause the injury of infected muscles (inflammatory disease includes the heart, joints, skin and brain, then occurs after two to four weeks of the incidence of sore throat...
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...Clinical and pathologic aspects of congenital myopathies Ikuya NONAKA MD National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan Abstract The term “congenital myopathy” is applied to muscle disorders presenting in infancy with generalized muscle weakness and hypotonia followed by delayed developmental milestones. The myopathy has been differentiated diagnostically on the basis of their morphologic characteristics and includes nemaline myopathy, central core disease, myotubular (centronuclear) myopathy and congenital fiber type disproportion. In most of these disorders, there are 3 distinct subtypes: severe infantile, benign congenital and adult onset forms. The mode of inheritance and gene loci are variable, although each disorder shares the common clinical features including facial and prominent neck flexor weakness and preferential respiratory muscle involvement. All mutations identified in nemaline myopathy are localized to the actin filament components, suggesting that the disease is related to sarcoplasmic thin filaments or Z-protein abnormalities. On the other hand, X-linked myotubular myopathy has mutations in a family of tyrosine phosphatase (myotubularin gene) and central core disease in ryanodine receptor gene. In all these disorders, the common pathologic features are small muscle fibers with type 1 fiber atrophy and predominance, which account for the small muscle bulk and generalized muscle weakness. INTRODUCTION NEMALINE MYOPATHY The term congenital...
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...In order to discover the ways for the remedy of diseases, studies in therapeutic approaches have been doing widely and kept increasing at accelerated pace. A lot of research areas had emerged for that purpose including one of the most fascinating and highly active areas at present, stem cells therapies. Due to self-renewal property and differentiation capability of stem cell, it becomes a new hope in modern treatment. The first successful case of stem cell therapy in human was reported in 1959. Bone marrow restorations were observed in leukemia patients who received total body irradiation subsequent by intravenous injection of their twins’ bone marrow (Thomas et al, 1957). Nevertheless, that effect was transient and the following bone marrow transplantation attempts in non-twin patients and donors can eventually lead to patient’s death from graft-versus-host disease (Mathé et al, 1965). During that time, the safety of hematopoietic cells transplantation was not guaranteed because of the limited knowledge in human histocompatibility and immunosuppression. However, the turning point came after the discovery of human leucocyte antigen (HLA) groups (Dausset, 1958; van Rood et al, 1958), HLA typing and compatibility testing were performed prior to the transplantation. In addition, the improvement of immunosuppressive protocol also helps bringing the bone marrow transplantation to become more and more successful (Donnall and Hutchinson, 1999). Although the success rate of hematopoietic...
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...The Avenger’s Movie Premiere A night at Cowboy's Stadium Benefiting: Children's Medical Center of Dallas Table of Contents Executive Summary.......................................................................3 Background Dallas Chamber of Commerce………………..……………….4 Cinemark…………………………………………………………4 Children’s Medical Center of Dallas.......................................5 Event Details VIP.........................................................................................6 General Admission................................................................7 Timeline………………………………………………………………...8 Budget..........................................................................................9 Appendix A Case Studies…………………………………………...10 Appendix B Letters of Recommendation..………………..……….11 Appendix C Assumptions....………………………………………...14 Appendix D Citations..…………..………...………….……………..15 Appendix E Stadium Map………………………………………...…16 Appendix F Parking Map…………………………………………....17 Executive Summary Want to see the biggest movie of summer 2012 on the biggest high definition screen in the world? Cinemark Theaters presents a movie premiere featuring Marvel Studios’ “The Avengers”, the most anticipated movie of 2012 at Cowboys Stadium in Arlington, Texas. Along with a VIP party before the screening of the movie, this event will be to benefit medical research for Children’s Medical Center of Dallas. The VIP guest list will include...
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