Research & Explain the Duchenne Muscular Dystrophy Disease - 1100 Words

Research & Explain the Duchenne Muscular Dystrophy Disease (Essay Sample) Content: Duchenne Muscular DystrophyName:Institution:AbstractDuchenne muscular dystrophy (DMD) is an X-linked disorder. The disease affects muscles leading to progressive degeneration and muscle weakness. The genes that cause the disease are recessive and code for the protein dystrophin. The protein is one of the several cell membrane proteins in the muscle cell that form the dystrophin-glycoprotein complex. The complex is vital role in the maintenance of the muscle cell integrity. Therefore, lack of any of the proteins of the complex will lead to pathology, resulting in muscle wasting. The absence of dystrophin leads to DMD.IntroductionDuchenne muscular dystrophy is an inherited condition that leads to muscle weakness and progressive degeneration. It is caused by the absence of the necessary dystrophin protein responsible for muscle integrity. The absence is caused by a mutation in the DMD gene. The gene responsible for DMD is a complex gene (Behrman, Kliegman Jenson, 2011). It measures about 2,400 kb and has 79 exons. It is located at XP21.1 of the X-chromosome in the human genome. It is one of the biggest genes in humans. The gene encodes for a 420 kDa protein, dystrophin (Nowak Davies, 2004). The protein has many isoforms depending on the location. These include the tissue-specific protein, CNS proteins, the proteins in Schwan cells of peripheral nerves and other tissues such as cardiac muscle, skeletal muscle, embryonic and smooth muscles. In the muscles and neurons, the protein is found in the cell membrane and myo- tendinous junctions (Emery, 2003).EtiologyDuchenne muscular dystrophy is a common X-chromosome linked muscle disorder. It was first noted by Guillaume Benjamin Duchenne, a French neurologist, in the 1860s. Little was known about the disease till the 1980s when the mutated gene on the X-chromosome was identified. The protein, dystrophin, which was associated with the gene, was identified in 1987 (mda.org). Lack of the protein in the ce lls of the muscle makes them fragile and easily damaged.Duchenne muscular dystrophy is caused by a mutation in a recessive gene on the X-chromosome and occurs in about 1:3500 males (Nowak Davies, 2004). Males are more fully affected by the DMD disease as they have one X chromosome. They inherit the mutated gene from the mother. Females are mostly carriers though they can experience a less severe form of the DMD. The gene that is mutated to cause Duchenne musclar dystrophy (DMD) codes for the protein dystrophin. About 40% of DMD gene mutations are small frame-shift rearrangements or point mutations while about 60% are large deletions or insertions leading to frameshift errors downstream. Dystrophin protein normally helps maintain the integrity of the muscle cells. The protein hence is found missing in DMD. When the function of the protein is reduced, or it is partially expressed, the condition is referred to as Becker disease, a mild variance of DMD (Behrman, Kliegman Jenson, 2011) .PathophysiologyDystrophin protein plays a primary role in the muscle as the linkage of the internal cytoskeleton to the ECF. The amino terminus of the protein binds to the carboxyl terminus of the dystrophin-associated protein complex and F-actin at the sarcolemma. The complex (also known as DAPG) is also composed of sarcoglycans, dystroglycan, integrins, and caveolin. A mutation in any of these components causes muscle dystrophy. In the absence of dystrophin protein, the DAPC becomes destabilized. This leads to diminishing of the levels of the member proteins, leading to progressive fiber damage and leakage of the membrane. The loss of DAPG, which also has a signaling role, leads to the pathogenesis (Deconinck Dan 2007).Signs and SymptomsThe disease is hereditary, and hence the symptoms can appear as early as infancy but delayed symptoms appear before the age of six years. The symptoms of DMD are usually muscle related. They include muscle weakness, difficulty with motor skills, fatigue, and breathing difficulties. The patients often experience trouble waking up or even walking. The children may also present with low IQ and learning difficulties. The symptoms progress with age and become severe. There may be a permanent loss of the ability to walk by the age of nine years. By the age of twelve, the DMD patients are bound to wheelchairs. Most of them die in the late teenage or early twenties of respiratory failure. According to Behrman, Kliegman and Jenson (2011), the male patients show an abnormal cardiogram by the age of eighteen, hence showing problems with the cardiac muscle and diaphragm.A complete neurological, cardiac, muscular and lung exam may show different signs. The patient may present with cardiomyopathy, congestive heart failure resulting to arrhythmias, scoliosis (deformities of chest and back), muscle mass wasting and muscle deformities. Other muscle signs that the patient might present include contractures and pseudohypertrophy (replacement of muscle with fats). In the late stages, the patient presents with respiratory disorders such as pneumonia (Emery, 2003).DiagnosisThere are various tests that can be utilized to make a diagnosis of DMD. These include muscle biopsies, electromyography (EMG), genetic testing and serum creatine phosphokinase (CPK). The genetic screening is the definitive diagnosis for the disease. EMG result can be used hand in hand with the results of the other tests to give a clue to the muscle dystrophies but wont confidently point to DMD (Behrman, Kliegman Jenson, 2011). The signs and symptoms should always be supported by the laboratory diagnosis for a better treatment of DMD. Constant monitoring of the patients should be employed to ensure the therapy is working (Emery, 2003).TreatmentThere has been no definitively developed treatment for DMD. All therapies and treatments give to DMD patients are intended to alleviate the symptoms and signs. They include drugs designed to slow down the degenera tion of muscles and improve the quality of life of the patient. There has been no explained effectiveness of the supportive therapies currently administered. Steroids are administered to slow down the muscle wast...

Isopropyl Alcohol And Its Various Uses - 1277 Words

Description Did you know that the alcohol present in the rubbing alcohol that we find in the store is isopropyl alcohol? Besides being a disinfectant, isopropyl alcohol has other uses. In this lesson, we will learn all about isopropyl alcohol and its various uses. !!!Isopropyl Alcohol: Structure and Formula Are you prone to getting minor cuts and wounds? If you are then you must be no stranger to using rubbing alcohol. It is a must to have rubbing alcohol in our first aid kits, as well as in our medicine cabinets. Isopropyl alcohol is most popularly known as the alcohol that is used in rubbing alcohol. Aside from this, isopropyl alcohol has other uses, which we will discuss later on. Isopropyl Alcohol: The Alcohol in Rubbing Alcohol Let’s talk about the chemical formula and structure of isopropyl alcohol. The __chemical formula__ of isopropyl alcohol is C3H8O, so there are three carbon (C) atoms, eight hydrogen (H) atoms and one oxygen (O) atom. The chemical formula of isopropyl alcohol can be written different ways, as shown below. As you can see, even though the chemical formula can be written different ways, you can see that there are still the same number of carbon, hydrogen and oxygen atoms. 1. C3H8O 2. C3H7OH 3. CH3CHOHCH3 4. (CH3)2CHOH Different ways to Write the Chemical Formula of Isopropyl Alcohol __Isopropyl alcohol__, also referred to as isopropanol, is a colorless and flammable liquid, and if you have smelled rubbing alcohol that you have bought inShow MoreRelatedHow Alcohol Is An Important Aspect Necessary For Human Survival1322 Words   |  6 PagesAlcohol presents an important aspect necessary for human survival owing to its wide-ranging benefits in the clinical context. Ideally, alcohol acts as an effective germ killer owing to its great potential of coagulating a germ’s protein. 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System Development Approach-Free-Samples-Myassignmenthelp.com

Question: Discuss about the System Development Approach. Answer: Introduction Allsports is a multi-sport organization that has a huge number of members that are engaged in different types of sporting activities. The company publishes its newsletter on a weekly basis. There are certain problems that are associated with the current system in terms of information management, storage, and processing. An automated system, All Sports Club Information System (ASCIS) has been recommended to overcome the problems with the current system. The aim of the report is to cover the details of the new information system such as the system development approach, project cost benefit analysis and schedule along with system requirements and investigation techniques Approach to Systems Development All Sports Club Information System (ASCIS) can be developed by using a number of different approaches and methodologies. There are primarily two categories of approaches that are applied as predictive approach or adaptive approach. In case of ASCIS, the approach that has a higher degree of applicability is the adaptive approach for system development. It is because of the nature of the requirements that shall be implemented in the system. The members that are engaged with ASCIS may increase or decrease in number which is sure to have an impact on the frequency of the newsletters that are shared. It will be required for the system to be dynamic in nature so as to handle the variations in the information management and the data operations. Adaptive approach to system development such as agile methodology will be apt in the case of ASCIS as the methodology will be able to handle the dynamic nature of the requirements (Subramaniam, 2007). It will allow the system to be flexible and scalable in nature which will ensure that the changes in terms of the scope or related project factors are met with ease. The project client will also be updated regularly regarding the project status and project progress and will also be asked for the feedback. In such a manner, the end-product that will be delivered and deployed in the form of ASCIS will be as per the specifications provided by the client. The information storage that will be included in the system will also be as per the changing nature of storage necessities in the system (Williams, 2007). 3. Systems Requirements Functional Requirements The system shall provide the users with the ability to login. The system shall have the ability to store member details as demographic information and the details of the sports that they play. The system must store newsletters with their date of submission, title of the article, and file name and advertiser details as the mandatory attributes (Turner, Maylor and Swart, 2013). Advertiser demographics and contact details must be stored in the system. The system must create, store and provide the ability to extract the reports including member details, advertiser information, details of the newsletters along with the article details. The system must create alerts before the due date of the publishing of a newsletter to ensure that there are no delays (Bredillet, 2005). The information associated with the members who have published or edited the newsletters shall be visible on the basis of filters such as member id or email address. Non-Functional Requirements The system shall be scalable in nature to ensure that it may be modified as per the changing nature of requirements. The system shall always be available to the users to allow them to view, share or edit the information. The system shall be secure in nature so that the information that is stored is always protected (Anshin, 2013). Reliability shall be included in the system to make sure that there is valid information that is presented as a response to the user action or the query made by the user. The system shall be easy to maintain and the support activities that are carried out must also be convenient to execute. Project Cost Benefit Analysis Cost-Benefit Analysis is one of the most significant estimates that are carried out in the projects. It is necessary to have an account of the probable costs and expenses that may be spent during the project timeline along with the corresponding benefits that will be gained. In case of All Sports Club Information System (ASCIS), the overall budget that has been estimated is $60,000. The discount factor that is applicable in this project is 6%. It has also been estimated that the staffing costs will reduce by $2,000 on a monthly basis. It will be because of the reason that there will an enhanced use of automation that will be carried out replacing the problems that are present with the current system. This in return will enhance the income by $1,000. The overall profitability that will come out as a result will be $3,000 (Canils and Romijn, 2008). The budget that has been estimated includes the cost of maintenance which will be $1,200 per month making it $14,400 on a yearly basis. There will also be a one-time cost of tools that will be spent along with the cost of resources, development and designing cost, deployment and testing costs along with the closure costs. Work Breakdown Structure Work Breakdown Structure (WBS) is the tool that is used to represent the project schedule and the project activities in the form of packages and sub-packages. The tool is used to estimate the project schedule and also tracks the completion of the activities that are involved. The cost estimation can also be done using WBS. Gantt chart is another tool which is used to represent the project activities in the form of a timeline. The timeline represents the project activities and the resources that are assigned to each activity. WBS and Gantt chart have a close association with each other as both of these tools are used to track the project progress and also aid in the processes of estimations regarding the project (Parnell, 2008). The project schedule that has been estimated for the project is reasonable as the allocation of the hours that shall be spent on the completion of the activities is as per the effort that is required to be put in. Also, the activities have been estimated in such a manner that the budget that has been allocated for the project does not exceed. The schedule has been created in such a way that there is a proper allocation of the resources done without any cases of over-lapping or over-loading System Information Requirement Investigation Techniques Project Stakeholders Project Client: The client will be interested in the project as the system will overcome the issues with the current system and will enhance the quality of the operations resulting in better performance and results. End-Users: The system will allow the easier management of the information and the operations leading to higher satisfaction and engagement (Stead, 2008). Project Manager: The project manager will be responsible and accountable for project planning, closure and analysis activities. The project success or failure will have a direct impact on the project manager. Project Team Members: The project resources will be responsible and accountable for all of the operational tasks and activities. The project success or failure will have a direct impact on the project resources. Information Investigation Techniques Interviews: The technique will allow the system stakeholders to gain information regarding the project in terms of the functional and non-functional requirements and specifications. It will be done through the designing of the interview questions and conduction of the process by receiving the responses and recording of the same. Brainstorming: This technique will allow the generation and exploration of the new ideas and concepts. It will be done through a process of group discussions with the relevant stakeholders to retrieve meaningful information. Observation: There will be a lot of data that will be present with the organizations in the form of historical data and references along with the existing operations. The technique will include the practical observation of the processes carried out to understand the problems in the current system and implement the required changes in the new syst Conclusions The project of All Sports Club Information Systems (ASCIS) is a step towards the use and application of the latest technology in the business activities to overcome the issues and problems that are involved with the current system. The project is required to be completed in the estimated schedule and budget constraints to make sure that the timely delivery of the system is made successfully. The project brings forward the significance of the project phases as planning and analysis. These phases form the strong base that is required to be created in order to achieve project success. The information regarding the project requirements shall be investigated as per the apt technique. References Anshin, V. (2013). Strategic and Organizational Aspects of Project Systems Management Considering Sustainable Development Concept. Russian Journal of Project Management, 2(3), pp.3-12. Bredillet, P. (2005). International Journal of Project Management. International Journal of Project Management, 23(1), p.86. Canils, M. and Romijn, H. (2008). Strategic niche management: towards a policy tool for sustainable development. Technology Analysis Strategic Management, 20(2), pp.245-266. Parnell, J. (2008). Sustainable strategic management: construct, parameters, research directions. International Journal of Sustainable Strategic Management, 1(1), p.35. Stead, J. (2008). Sustainable strategic management: an evolutionary perspective. International Journal of Sustainable Strategic Management, 1(1), p.62. Subramaniam, V. (2007). Agile Methodologies. [online] Available at: https://www.agiledeveloper.com/presentations/AgileMethodologies.pdf [Accessed 15 Aug. 2017]. Turner, N., Maylor, H. and Swart, J. (2013). Ambidexterity in managing business projects an intellectual capital perspective. International Journal of Managing Projects in Business, 6(2), pp.379-389. Williams, L. (2007). A Survey of Agile Development Methodologies. [online] Available at: https://agile.csc.ncsu.edu/SEMaterials/AgileMethods.pdf [Accessed 15 Aug. 2017]

Online Term Paper Writing Service

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The Run Down on Essay Topics for Class 10 Cbse Exposed

The Run Down on Essay Topics for Class 10 Cbse Exposed Moreover, with a thorough understanding of the concepts, you are able to comfortably handle questions related to those concepts. Our experts advise students to maintain a time record when solving maths problem to score much better. By doing so the students may enhance their time-management skills. All the Students can begin planning their academic career on the grounds of this outcome. The CBSE exam result will shortly be announced on the official site. Consequently, CBSE sample papers function as the very best source to acquire a preview of the board exam paper. CBSE took the last shape it operates today in the calendar year 1952. The CBSE Guess papers which we're offering have been created according to the most recent CBSE syllabus. Now in case you have downloaded the sample papers successfully then I suggest that you get started preparing them. These sample papers are likewise a sort of CBSE Guess papers that aids the students in preparing for the principal exams. These cbse sample papers will be great for cbse 2019 exam. Download all of the sample papers here. Effective practice is essential if you wish to score excellent marks in your CBSE Class 10 Mathematics. CBSE Class 10 Time Table will be published soon. Utilizing precisely the same pattern as released by CBSE annually. Though your CGPA is on the report card, you should understand how to do it. CBSE provides several books which could be utilized as the ideal partner for clearing exams. The 2 levels of Examination is going to be held in the topic of Mathematics for Class 10th Board exam in the calendar year 2020. A regulated timetable Exam preparation will become easier with the assistance of a well-defined study schedule. Students getting E1 or E2 grades, will need to sit in re-examination in a month. To begin with, you want to go organized and clear your head. The Importance of Essay Topics for Class 10 Cbse Students get to understand the question paper pattern and the way the questions can be framed dependent on the marking criteria. 2 Question-6 Write the HTML code to create the next output. Attempt to memorize the long answers in the shape of points rather than paragraphs. You will need to follow along with the detailed procedure given below to acquire your CBSE 10th result online. The results will be shown on the monitor. So far as the outcomes of the examination are involved, the board is wholly tightlipped regarding the exact same. Step 8 Download the end result and have a printout for future references. When compared to last few decades, in 2017 the overall quantities of students in the examination are increasing. Following are several types of essay topics for students that are categorized in many sections so you can easily chose the topic in accordance with your need and requirement. Then there are the bodily aspects. Do not take stress throughout the full CBSE Class 10 Preparation time, in actuality, keep away from stressful individuals. The Ugly Secret of Essay Topics for Class 10 Cbse Activity Here are a couple of topics for essay writing. Students want to underline key words in every single answer. When you check the outcome, you are going to be able to select the print out of it or you could download it in PDF Format. You will receive a total of 30 minutes to complete your paper. If you're in search for a sample paper or reference book then you have to get in touch with any neighborhood book shop. Each year around a couple of months necessary to inspect the copies. Students will have to dial these numbers to obtain their result. Please note that they can also check their result will the help of IVR. The outcomes of these exams are released by the conclusion of May. Essay Topics for Class 10 Cbse Options Essay writing is thought to be one of the most important and creative elements of every competitive examination around the world. Since it's the very first board exam a little one appears for there is often lots of apprehension involved. Also, there may be essay, speech or debate questions for Technology Technology has come to be an integral portion of our lives. Du e to the present attention on pollution and ozone depletion it will become the topic you need to have a look at.

A Startling Fact about Editing Essay Samples Uncovered

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Chemistry Extended Essay Samples

Chemistry Extended Essay SamplesChemical compounds are formed through the action of the reactions that lead to the separation of electrons in the molecules. Chemical reactions give rise to the chemical elements we see on the surface of a gas of varying degrees of solid, liquid, or gas. Chemical reactions create additional chemical compounds through the degradation of chemicals, which in turn create chemical compounds for further synthesis.The exchange of molecules leads to the chemical compounds that exist as the result of the exothermic and anhydrous actions of the chemical molecules, which gives rise to compounds that can exist as a solid, liquid, or gas. The formation of chemical compounds is one of the necessary steps of the synthesis process. Chemical reactions are the final result of the synthesis process that converts the chemical compounds to compounds that exist as a solid, liquid, or gas.Chemicals can exist as long as the reaction is sustained and which results in a separat ion of electrons in the molecules. If the reaction is not sustained and the reactions does not continue long enough for the chemical compound to develop into a solid, liquid, or gas, the chemical compound will not exist. When the reaction is done, the chemical compound remains as a chemical compound. When the chemical compound is separated out from the chemical compound that was originally produced by the reaction, the original chemical compound ceases to exist.Chemical compounds can be dispersed by dispersing a solid, liquid, or gas. The reaction that forms the chemical compound continues to exist as long as the chemical compound was separated from the original chemical compound that was formed by the reaction. Chemical compounds can exist as long as the chemical compound is exposed to air, which then acts on the chemical compound to create the chemical compound that exists as a solid, liquid, or gas.Once the chemical compound is separated from the original chemical compound that w as produced by the reaction, the chemical compound will not exist. When the original chemical compound ceases to exist, the original chemical compound that was produced by the reaction will cease to exist as well. Chemical compounds that exist as a solid, liquid, or gas will exist until the chemical compound is subjected to an external force to separate it from the original chemical compound that was produced by the reaction.When the chemical compound that was produced by the reaction is subjected to an external force, it will dissolve in the external force that produced the external force that separated the chemical compound from the original chemical compound that was produced by the reaction. The chemical compound that was separated from the original chemical compound will dissolve in the external force that produced the external force that separated the chemical compound from the original chemical compound that was produced by the reaction. Once the chemical compound is dissolve d in the external force that separated the chemical compound from the original chemical compound that was produced by the reaction, the chemical compound will cease to exist.Chemicals can exist as long as the chemical compounds are converted into compounds that exist as a solid, liquid, or gas. Chemical compounds that exist as a solid, liquid, or gas will exist until the chemical compound is subjected to an external force to separate it from the original chemical compound that was produced by the reaction.