Down Syndrome A Congenital Chromosomal Disorder

Down syndrome is a congenital chromosomal disorder during maternal meiosis. This is one of the most common chromosomal disease that has been confirmed (Epstein, 2013). Down syndrome causes some symptoms in children’s physical and mental aspects, which have significant differences with other people. It may cause the life of the child is abnormal and cannot live independently in the future. With the increased population of children with Down syndrome in Australia, it becomes prominent that they strongly impact on their family and society in both positive and negative ways. This article will introduce some basic information about Down syndrome, discuss its early intervention and ethical issues of having a baby with Down syndrome, and result in coming up with views in regards to terminating or continuing with the pregnancy of a foetus diagnosed with Down syndrome. Down syndrome is also called 21 trisomy, which is obviously pointed out the disorder occurs at the chromosome 21. Genetically, it has been found that there are 22 pairs of autosomes and one pair of sex chromosomes, where X and Y are sex chromosomes representing female and male respectively. These two kinds of chromosome pairs are normally made up 46 chromosomes in total while children with Down syndrome have 47 chromosomes, meaning they have one extra chromosome on the chromosome 21. This chromosomal disorder happens occasionally and randomly. One cannot put blame or fault on the individual or parent when the gene isShow MoreRelatedEssay on Cystic Fibrosis1025 Words   |  5 Pages Cystic Fibrosis is a disorder where the exocrine glands secrete abnormally thick mucus, leading to obstruction of the pancreas and chronic infections of the lungs, which usually cause death in childhood or early adulthood. Some mildly affected patients may survive longer. Doctors can diagnose the disease by testing the patients perspiration because people with Cystic Fibrosis have high amounts of salt in their perspiration. Those with respiratory infections are treated with antibioticsRead More Down Syndrome Essay603 Words   |  3 Pagesresulting in the birth of a child with a genetic or congenital defect or disease. One of the most common of these genetic disorders is Down syndrome. This disorder takes its name from Dr. Langdon Down, who was the first to describe it formally, in 1866. Down syndrome is a condition marked by abnormal physical and mental development that is caused by a genetic defect. This genetic defect is caused by an extra chromosome. People born with Down syndrome have 47 chromosomes compared to the normal amountRead MoreCongenital Condition Of Congenital Heart Defects1188 Words   |  5 PagesINTRODUCTION Congenital Heart Defects (CHDs) include all structural anomalies of the heart and the intrathoracic great vessels resulting from the errors in morphogenesis, during development. The incidence of CHDs among live births is estimated to be 3.7 to 7.7 per 1000 (Ferencz et al. 1985). CHDs are etiologically heterogenous and it could be due to genetic (single gene defects, chromosomal abnormality) and or environmental (multifactorial, teratogens) or unknown factors (Michels and RicardiRead MoreDown Syndrome As A Cognitive Disorder Essay1315 Words   |  6 Pages Down syndrome as a cognitive disorder Down syndrome (DS) is relatively well known as a genetic disorder to the general public and children with this syndrome form one of the most readily identifiable groups of children with moderate to severe learning difficulties. It has been over 130 years since Langdon Down first described DS and 30 years since the presence of the defining extra copy of chromosome 21 was identified by Lejeune andRead MoreThe Disorder Of Down Syndrome1431 Words   |  6 Pagesever wonder or questioned the disorder of down syndrome? According to many National Down Syndrome Society within the United States, Down syndrome has occurred one out of eight hundred births. It is the most frequent form of mental retardation and characterized by well-defined events and distinctive features. It’s a lifelong disorder caused by a genetic defeat that’s none curable. It takes people with patients and kind hearts to care for people with Down syndrome disorder. History In the late nineteenthRead MoreDown Syndrome Essay1515 Words   |  7 PagesDown Syndrome Downs Syndrome, it is one of the most frequently occurring chromosomal abnormalities found in humans effecting people of all ages, races and economic levels. It is a chromosomal anomaly in cell development that results in a person being born with forty-seven chromosomes instead of the normal forty-six chromosomes. People with Down syndrome may have mild to severe learning disabilities and physical symptoms, which include a small skull, extra folds of skin under the eyes, andRead MoreThe Discovery Of Down Syndrome874 Words   |  4 PagesDown syndrome is a common disorder where the child gets an extra copy of the 21st chromosome. It happens in every 691 babies born in the United States. This adds up to about 6,000 babies born with the disorder a year. The major points in this paper are: when the disorder was discovered, the symptoms, the lifespan, the medical treatments, if it is a dominant trait, what chromosome is affected, and how it is passed down to offspring. The discovery of Down syndrome was by an English physician namedRead MoreGenetic Disorders : A Genetic Disorder954 Words   |  4 Pages A genetic disorder is an illness that is caused by one or multiple abnormalities in the genome. Genetic disorders are not unusual, however when a genetic disorder occurs it usually happens in one and every thousand or million persons. Sometimes genetic disorders can or cannot be heritable, meaning passed down from the parents to their offspring. Often times the parents are unaware that they can carry over a genetic disorder to their offspring. When genetic disorders that does not occur from theRead MoreHistory of the Patau Syndrome1850 Words   |  7 PagesPatau Syndrome, otherwise known as T13 is a very rare and lethal genetic disorder in which a person has three copies of chromosome 13 instead of two. T13 is characterized by the presence of an assortment of heart and brain malformation in newborns. Children with the disease are often born with multiple birth defects that are normally associated with T13 but not limited to it, including small eyes, undescended testicles, cleft lip/palate, and they consistently exhibit signs of mental deficiency and/orRead MoreCongenital Diseases : Congenital Disease1210 Words   |  5 PagesCongenital disease Congenital disease (birth defect) are defects of any kind that are present at birth. However, not all are caused by a mutation in the DNA. Another way to say congenital disorder are birth defects. Congenital disease is where it â€Å"occurs at birth or even before birth†¦the incidence is 2~5% in newborn and the percentage of congenital disease related to genetic or chromosome defects was 60~70%.; the other 30% of etiology was unknown†¦ congenital disease can be categorized into chromosome

Relationship between Poor Fetal Growth and the Subsequent...

Epidemiological and animal studies have shown a relationship between poor fetal growth with the subsequent development of obesity, type 2 diabetes, and metabolic syndrome (Ravelli et al. 1976; Hales Ozanne 2003; Painter et al. 2008; Pembrey 2010). Such developmental programming has been explained by the â€Å"thrifty phenotype† hypothesis, which proposes that poor fetal nutrition can result in reprogramming of the fetus, which allows the offspring to maximize the bodys capacity for energy storage under conditions of poor nutrition once out of the womb. However, this phenotype would be detrimental under conditions where normal or excessive nutrition are present and would thus promote obesity (Hales Ozanne 2003). Body weight, food intake and metabolism are regulated by the hypothalamus that processes central and peripheral signals. Within the hypothalamus, neurons residing in the ARC (arcuate nucleus) – PVN (paraventricular) –PF/LH (perifornical/lateral hypothalamus) axis communicate with each other and are subjected to the influence of several peripheral factors, including leptin and insulin (Davis et al. 2010). The action of these hormones on food intake occurs in part by convergence on a specific set of neurons within the ARC (Elmquist et al. 1998, Abizaid Horvath 2008) that contains neuronal populations expressing orexigenic neuropeptide Y (NPY) and agouti-related peptide (AgRP) and the anorectic pro- opiomelanocortin (POMC). NPY synthesis and secretion have been found

Medical Malpractice Free Essays

How do we quantify pain and suffering? This question should be answered satisfactorily before people could even attempt to debate whether or not to impose limits on recovery in medical malpractice cases. Undoubtedly, it is difficult to talk about limits on damage awards without a standardized costing system which would guide the proper authorities to come up with a fair determination of the damages done to victims of medical malpractice. Since there is no such system, the task of ascertaining the extent of damage inflicted on victims is usually left to the country’s judicial system which decides the issue on a case-to-case basis. We will write a custom essay sample on Medical Malpractice or any similar topic only for you Order Now This being the case, setting a maximum limit or a cap on the amount that could be awarded to victims would be very difficult to justify because such an act would be highly discriminatory. For instance, a cap of $200,000 would mean that claimants could not be awarded with more than said amount. The unfairness of this system would be immediately evident in a situation where two individuals suffer the loss of their upper limbs, the first victim losing one and the second suffering from the loss of both limbs. The court could award $140,000 to the first victim who loses one limb, for example, but the claim of the second victim would be limited to $200,000 despite losing both limbs. What it would amount to is that the other limb lost by the second victim would only be compensated with $60,000. In this example, the second victim is not compensated fairly for his/her loss. Setting a cap therefore discriminates against the victim who suffers more. (Hiatt, 2002) Another question worth asking is: Who stands to gain if we do limit recovery? If the first question tends to be highly contentious, this second question involves a cut-and-dried issue because the answer is rather obvious. Putting a cap on awards granted in connection with medical malpractice cases favors only the medical practitioners who commit the act to the utter detriment of the victims. In other words, setting such a cap would treat the victims unfairly and favor the perpetrators. This, too, is discrimination. Some quarters attempt to justify this act by saying that providing for a maximum limit to recovery is a way of stemming the spiraling cost of health care in the country. Opponents, however, argue that this is not only deceptive but unconstitutional as well. (Hiatt, 2002) Critics of a cap on damage awards argue that it violates the Fourteenth Amendment which provides â€Å"equal protection† to all Americans. As illustrated earlier, a cap denies â€Å"equal protection† to those victims who suffer more, because they could not claim compensation beyond what the statutory cap allows. This was cited in Jones v. State Board of Medicine where the court declared unconstitutional the 1975 Hospital-Medical Liability Act passed by Idaho because it failed to treat victims of malpractice equally. In other words under the Act, the claimants whose injuries were deemed below the cap received full compensation while those whose damages exceeded the limit were denied the opportunity to recover fully because they were not awarded full compensation. (Hiatt, 2002) Another objection voiced against putting a cap on damage awards is the fact that it violates the individual’s â€Å"right to trial by jury.† Under the law, evaluating the extent of damages is a function of a jury. In the presence of a cap, the role of the jury is limited only up to the extent of the cap – in effect, interfering with the constitutional duty of a jury. In Boyd v. Bulala, the opinion of the federal district court was that the cap of $750,000 on damage awards set by the state of Virginia â€Å"violated the right to trial by jury provided for by both federal and state constitutions.† (Hiatt, 2002) It is clear from the foregoing discussion that limiting the recovery in medical malpractice cases is very prejudicial to the interests of the victims. In the interest of fairness, every malpractice case should be deliberated on by a jury based on its own merits and the extent of damage award be assessed without the constraints of a cap. This will give every victim of medical malpractice cases the much-needed opportunity for a full recovery. Reference Hiatt, M.D. (2002). Caps on Damage Awards in Medical Malpractice Cases: Constitutional Challenges. Retrieved October 28, 2007 from http://jpands.org/hacienda/hiatt1.html       How to cite Medical Malpractice, Essay examples

Project Management Methodology for Procedia- myassignmenthelp

Question: Discuss about theProject Management Methodology for ProcediaEngineering. Answer: For achieving the goals and for a defined schedule and budget, the manager tends to use a project. The methodology is a model which the project manager employs for a better designing, planning and the implementation of their objectives for a project. Jhertzfeld, (2006), considers that the project management is the art to work on the different defined constraints related to the scope, time, cost and quality. In this, the team has to organize the commitment of effort in order to produce a proper outcome, considering the constraints. The project manager is the person who is responsible for driving the project to success. Meredith Mantel, (2011), consider the project management mainly in terms to produce the project outcomes related to the cost, a proper scheduling, and the specifications. The project managers are considered to work on developing and executing the plans that meet the different parameters and focus on outcomes in terms of requirements. According to them, the knowledge, skills, and tools are important to meet the expectations of the client and focus on delivering the product rather than project specifications. Mullaly M., (2003), quotes project management as the way to manage the job functions for which the project managers are responsible for. The role of managingof producing a proper delivering and then overseeing the project as a whole helps in clearly communicating a defined value. Its role The effective use of PM is in the project management practices which includes: The adaptive framework of the project with certain constants like the time and cost. For proper execution of the project, the project scope is adjusted depending upon the maximum business value of the project. The Agile Software development for the project needs with extreme agility in requirements, dynamic team culture, and less restrictive project control. They are for lowing the cost which relates to the changes of requirements that are important for the fine-scale feedback and the continuous process (Karaman Kurt, 2015). The methodology focusses on the simple and the well-defined process with proper planning so that the different activities could be handled. The role is to develop products faster with a higher and better quality. The aim is to gather the requirements and use the workshop prototype that is used for getting clear requirements and re-use the software components with the development of timelines. Compare and contrast Similarities: The project management helps the people adopt a generic approach to using it with any project. Considering the risk areas, PM team and organization helps in creating a successful project that offers a greater flexibility and control. The inputs, outputs, tools, and techniques with knowledge areas include Integration Management, Scope, Time and cost management with proper procurement services (Jamali Oveisi, 2016). It helps in defining and approaching to execution and monitoring the control with tracking the progress and checking the performances which are required for implementing the required changes. Differences Prince 2 PMBOK Approach Prescriptive approach with templates, and proper roles and responsibilities for the different stakeholders. The body of knowledge with highly descriptive comprehensive that includes the different processes, tools, and the techniques. Knowledge approach The process-driven approach that helps in describing the Project Manager and the other stakeholders. They tell them what needs to be exactly done in the project. The approach is to define the knowledge collection and recognize the project best practices which a project manager should know. Knowledge areas Integration There is a combination of the processes, themes and the changes. Efficiency Requires scope, time and cost A proper planning, with business case and progress. Risks Risks Risks Procedure Communication Progress Procurement Yes None Management HRM, Stakeholder Management Organisation The processes of Prince 2 are to focus on starting up a project which includes the activities to assemble the project management team and create the project brief depending on the approach, and the plan. The project initiation is depending upon documenting the project plan, business case, risks and the project for the next project. Project Direction is to control the project and involve the authorizations with giving a proper direction and confirming project initiation stage plans. The controlling phase is related to the activities and then managing the issues with status reviews and then also taking different actions for escalating the issues and receiving the work packages. The management of the stages with proper planning and updating the information depends on handling the risk logs and reporting the ends of the project. The management of the product delivery with its closure includes the proper final testing and delivery package. The project life cycle is handled through working on project delivery of the new or the changed products. With this, there are roles to determine the different aspects of the project that will ensure a proper planning to work in detail (Brioso, 2015). The importance of the project is to evaluate the original plans and plan to lesson depending upon expected costs and benefits with operations. The analysis is done for the business case to recognize the project management from the customer side with major advantage to maintain the focus on business products as well. References Brioso, X. (2015). Integrating ISO 21500 guidance on project management, lean construction and PMBOK.Procedia Engineering,123, 76-84. Jamali, G., Oveisi, M. (2016). A Study on Project Management Based on PMBOK and PRINCE2.Modern Applied Science,10(6), 142. Jhertzfeld, (2006).Simple Definitions: Project, Project Management, Project Manager. [online] Available at: https://it.toolbox.com/blogs/jhertzfeld/simple-definitions-project-project-management-project-manager-070606 Karaman, E., Kurt, M. (2015). Comparison of project management methodologies: prince 2 versus PMBOK for it projects.Int. Journal of Applied Sciences and Engineering Research,4(5), 657-664. Meredith, J. R., Mantel Jr, S. J. (2011).Project management: a managerial approach. John Wiley Sons. Mullaly, M. (2003).Project Management: A New Definition. [online] ProjectManagement.com. Available at: https://www.projectmanagement.com/articles/183068/Project-Management--A-New-Definition.